المؤلفون: Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: ctlam2@uw.edu., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong KongSAR, China., Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, USA., Sarafoglou K; Divisions of Endocrinology and Genetics-Metabolism, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA; Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy, Minneapolis, MN, USA., Andersson HC; Hayward Genetics Center, Dept Pediatrics Tulane School of Medicine, USA., Sklirou E; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Tan QKG; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Starosta RT; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, USA., Sadek M; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Wolfe L; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, MD, USA., Horikoshi S; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Ali M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute, IRCCS, Troina, Italy., Campbell T; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Chang IJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Coles K; Child Health Research Enterprise, Children's Hospital Colorado, USA., Cook E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Eklund EA; Department of Clinical Sciences, Lund University, Lund, Sweden; Department of Pediatrics, Skåne University Hospital, Lund, Sweden., Engelhardt NM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Freeman M; Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, USA., Friedman J; Division of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA; Rady Children's Hospital, San Diego, CA, USA., Fu DYT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Botzo G; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Rawls B; Texas Children's Hospital, Houston, TX, USA., Hernandez C; Child Health Research Enterprise, Children's Hospital Colorado, USA., Johnsen C; Department of Pediatrics and Adolescent Medicine, University Medical Centre, Göttingen, Germany., Keller K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Kramer S; Pediatric Clinical Research Services, University of Minnesota, Minneapolis, MN, USA., Kuschel B; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Leshinski A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Martinez-Duncker I; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Mazza GL; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ, USA., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada., Miller BS; Division of Endocrinology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA., Muthusamy K; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Neira J; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Patterson MC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Pogorelc N; Pediatric Clinical Research Services, University of Minnesota, Minneapolis, MN, USA., Powers LN; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Ramey E; Pediatric Clinical Research Services, University of Minnesota, Minneapolis, MN, USA., Reinhart M; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Squire A; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Vockley J; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, United States; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, United States; Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Vreugdenhil H; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Witters P; Department of Development and Regeneration, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Youbi M; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Zeighami A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Morava E; Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, USA.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108509. Date of Electronic Publication: 2024 Jun 06.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology, Humans ; Male ; Female ; Cross-Sectional Studies ; Child ; Child, Preschool ; Adolescent ; Glycosylation ; Adult ; Retrospective Studies ; Infant ; Young Adult ; Prospective Studies ; Cohort Studies

المؤلفون: Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rockart L; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Blaine Crowley T; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Asher S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Back A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baldino SM; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bedoukian E; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Britt AD; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Burrill N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cacioppo C; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark DF; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark ME; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Conway L; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Dratch L; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ginn N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gray C; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hartman T; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hathaway ER; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hoffman-Andrews L; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kasperski S; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keller KN; Center for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Long JM; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lulis L; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McGinn DE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Mueller R; Masters Genetic Counseling Program, Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Paul RA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Pilchman L; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Powers J; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Raible SE; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Reichert S; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Arnold AG; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Schindewolf E; CHOP Precision Medicine Services, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sullivan KR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wang B; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wells M; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Wisniewski N; Obstetrics and Gynecology Reproductive Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wright R; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wood EM; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Woyciechowski S; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zelley K; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Valverde KD; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., McDonald-McGinn DM; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy.

المصدر: Genes [Genes (Basel)] 2024 Jul 01; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Counseling*, Humans ; Counselors ; Journal Impact Factor

المؤلفون: Boerio ML; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, TX (M.L.B., I.C.M., A.P., D.G., S.K.P., D.M.M.)., Engelhardt NM; Division of Human Genetics, Children's Hospital of Philadelphia, PA (N.M.E., S.C., J.I.G.)., Cuddapah S; Division of Human Genetics, Children's Hospital of Philadelphia, PA (N.M.E., S.C., J.I.G.)., Gold JI; Division of Human Genetics, Children's Hospital of Philadelphia, PA (N.M.E., S.C., J.I.G.)., Marin IC; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, TX (M.L.B., I.C.M., A.P., D.G., S.K.P., D.M.M.)., Pinard A; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, TX (M.L.B., I.C.M., A.P., D.G., S.K.P., D.M.M.)., Guo D; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, TX (M.L.B., I.C.M., A.P., D.G., S.K.P., D.M.M.)., Prakash SK; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, TX (M.L.B., I.C.M., A.P., D.G., S.K.P., D.M.M.)., Milewicz DM; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, TX (M.L.B., I.C.M., A.P., D.G., S.K.P., D.M.M.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2022 Dec; Vol. 15 (6), pp. e003707. Date of Electronic Publication: 2022 Nov 09.

نوع المنشور: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Aneurysm, Thoracic* , Aortic Diseases*/genetics, Humans ; Aorta ; Ubiquitin-Protein Ligases

المؤلفون: Priestley JRC; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pace LM; Department of Pediatrics, University of Florida College of Medicine, Jacksonville, FL, USA., Sen K; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA., Aggarwal A; Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Alves CAPF; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cuddapah SR; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Eskandar M; Division of Child Neurology, Children's National Hospital, Washington D.C., USA., Jolín García PC; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gropman A; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA., Helbig I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Trapane P; Division of Pediatric Genetics, Department of Genetics, University of Florida College of Medicine, Jacksonville, FL, USA.; UF Health Precision Medicine Program, University of Florida Health System, Jacksonville, FL, USA., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Suwannarat P; Genetics, Kaiser Permanente MidAtlantic, Rockville, MD, USA., Ganetzky RD; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Nov 16; Vol. 33, pp. 100931. Date of Electronic Publication: 2022 Nov 16 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Albokhari D; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Taibah University College of Medicine, Medina, Saudi Arabia., Ng BG; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA., Guberinic A; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Engelhardt NM; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Barone R; Department of Clinical and Experimental Medicine, Division of Child Neurology and Psychiatry, University of Catania, Catania, Italy., Fiumara A; Department of Clinical and Experimental Medicine, Pediatric Clinic, University of Catania, Catania, Italy., Garavelli L; Medical Genetics Unit, Mother and Child Department, Local Health Authority (AUSL) of Reggio Emilia Research Unit (IRCCS), Arcispedale Santa Maria Nuova, Reggio Emilia, Italy., Trimarchi G; Medical Genetics Unit, Mother and Child Department, Local Health Authority (AUSL) of Reggio Emilia Research Unit (IRCCS), Arcispedale Santa Maria Nuova, Reggio Emilia, Italy., Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Center of Integrated Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Sep; Vol. 45 (5), pp. 969-980. Date of Electronic Publication: 2022 Jun 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder* , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/therapy, Glucosyltransferases/genetics ; Glycosylation ; Humans ; Phenotype

المؤلفون: Priestley JRC; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Drewes Williams S; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Lichter-Konecki U; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Menello C; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., DiPerna JC; PerkinElmer, Mass Spectroscopy Unit, Pittsburgh, PA 15275, USA., DiBoscio B; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ahrens-Nicklas RC; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Edmondson AC; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Reynoso Santos FJ; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Ficicioglu C; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

المصدر: International journal of neonatal screening [Int J Neonatal Screen] 2022 Mar 23; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

المؤلفون: Alsharhan H; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Friedman J; Division of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA., Pivnick EK; Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Science Center (UTHSC), Memphis, Tennessee, USA., Al-Hashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital King Fahad Medical City, Riyadh, Saudi Arabia., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Engelhardt NM; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Keller KN; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chen J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mazzeo PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute, Seattle, Washington, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute, Seattle, Washington, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Center of Integrated Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics (UW-CMG)

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 987-1000. Date of Electronic Publication: 2021 Mar 01.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation/*genetics , Mannosyltransferases/*genetics, Adolescent ; Adult ; Child, Preschool ; Congenital Disorders of Glycosylation/pathology ; Congenital Disorders of Glycosylation/physiopathology ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype ; Young Adult