المؤلفون: Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A, Scott DA

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: B(0)AT1, +AT, EAAC1, Hartnup disease, B0AT1, rBAT-b0,+AT, aminoaciduria, CLTRN, rBAT-b0

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c21f0f691e8a477a16e7ac3272728cb
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16621

المؤلفون: Shayota BJ; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. Electronic address: brian.shayota@hsc.utah.edu.

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2024 Jan; Vol. 21 (1), pp. e00325. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

مواضيع طبية MeSH: Growth Differentiation Factor 15* , Mitochondrial Diseases*/diagnosis , Mitochondrial Diseases*/genetics, Humans ; Biomarkers ; Pyruvic Acid ; Lactic Acid ; DNA, Mitochondrial

المؤلفون: Shayota BJ; University of Utah, 295 Chipeta Way, Salt Lake City, UT 84108, USA; Primary Children's Hospital, Salt Lake City, UT, USA. Electronic address: brian.shayota@hsc.utah.edu.

المصدر: Pediatric clinics of North America [Pediatr Clin North Am] 2023 Oct; Vol. 70 (5), pp. 929-936. Date of Electronic Publication: 2023 Jul 06.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0401126 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8240 (Electronic) Linking ISSN: 00313955 NLM ISO Abbreviation: Pediatr Clin North Am Subsets: MEDLINE

مواضيع طبية MeSH: Epigenesis, Genetic* , Metabolomics*, Humans ; Genetic Testing ; RNA

المؤلفون: McGee SR; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA., Rajamanickam S; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA., Adhikari S; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA., Falayi OC, Wilson TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA., Shayota BJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.; Department of Pediatrics, Division of Genetics, University of Utah, Salt Lake City, UT., Cooley Coleman JA; Greenwood Genetic Center, Greenwood, SC, USA., Skinner C; Greenwood Genetic Center, Greenwood, SC, USA., Caylor RC; Greenwood Genetic Center, Greenwood, SC, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Quaio CRAC; Instituto da Criança (Children's Hospital), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, SP, Brazil.; Laboratório Clínico, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Wilke BC; Unicamp, Campinas, SP, Brazil., Bain JM; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, USA., Anyane-Yeboa K; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, USA., Brown K; Departments of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, NY USA., Greally JM; Departments of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, NY USA.; Departments of Genetics, Albert Einstein College of Medicine, Bronx, NY USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, PO box 9600, 2300 RC, Leiden, The Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Centre, PO box 9600, 2300 RC, Leiden, The Netherlands., Politi K; ALYN Hospital, Jerusalem, Israel., Arbogast LA; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA., Collard MW; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA., Huggenvik JI; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA., Jensik PJ; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 386-401.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder* , Neurodevelopmental Disorders*/genetics, Animals ; Mice ; DNA-Binding Proteins/genetics ; Transcription Factors/genetics ; Transcription Factors/metabolism ; RNA

المؤلفون: Reynolds HM; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA., Wen T; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Farrell A; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Mao R; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Moore B; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Boyden SE; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Bayrak-Toydemir P; University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Nicholas TJ; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Rynearson S; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Holt C; Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA., Miller C; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Noble K; ARUP Laboratories, Salt Lake City, Utah 84108, USA., Bentley D; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84112, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA., Ostrander B; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA., Manberg S; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah 84108, USA., Shayota BJ; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA., Jenkins SM; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Dec 28; Vol. 8 (7). Date of Electronic Publication: 2022 Dec 28 (Print Publication: 2022).

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

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/diagnosis , Myasthenic Syndromes, Congenital*/genetics, Humans ; Chromosome Mapping ; Pedigree ; Phenotype ; Synaptosomal-Associated Protein 25/genetics ; Whole Genome Sequencing

المؤلفون: Aldag E; Department of Pediatrics.; Division of Hematology-Oncology, Department of Pediatrics.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT., Fan EM; Division of Hematology-Oncology, Department of Pediatrics.; Division of Neonatology, Department of Pediatrics.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT., Marshall I; Division of Hematology-Oncology, Department of Pediatrics., Christensen RD; Division of Genetics, Department of Pediatrics, University of Utah.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT., Shayota BJ; University of Utah School of Medicine.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT., Meznarich JA; Division of Neonatology, Department of Pediatrics.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT.

المصدر: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2022 Oct 01; Vol. 44 (7), pp. 409-411. Date of Electronic Publication: 2022 Mar 30.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Fructose Intolerance*/diagnosis , Pyloromyotomy*, Diet ; Humans ; Infant ; Liver ; Male

المؤلفون: Nicholas TJ; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Al-Sweel N; ARUP Laboratories, Salt Lake City, USA.; Department of Pathology, University of Utah, Salt Lake City, USA., Farrell A; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Mao R; ARUP Laboratories, Salt Lake City, USA.; Department of Pathology, University of Utah, Salt Lake City, USA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, USA.; Department of Pathology, University of Utah, Salt Lake City, USA., Miller CE; ARUP Laboratories, Salt Lake City, USA., Bentley D; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA.; Primary Children's Center for Personalized Medicine, Salt Lake City, USA., Moore B; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Hernandez EJ; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Cormier MJ; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Fredrickson E; ARUP Laboratories, Salt Lake City, USA., Noble K; ARUP Laboratories, Salt Lake City, USA., Rynearson S; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Holt C; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Karren MA; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA.; Primary Children's Center for Personalized Medicine, Salt Lake City, USA., Tristani-Firouzi M; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA., Yandell M; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Marth G; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Quinlan AR; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA.; Department of Biomedical Informatics, University of Utah, Salt Lake City, USA., Brunelli L; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA., Toydemir RM; ARUP Laboratories, Salt Lake City, USA.; Department of Pathology, University of Utah, Salt Lake City, USA., Shayota BJ; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA., Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA., Boyden SE; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, USA., Malone Jenkins S; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, USA.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1888. Date of Electronic Publication: 2022 Feb 04.

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

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Hernias, Diaphragmatic, Congenital*/genetics, DNA-Binding Proteins/genetics ; Genomics ; Humans ; Infant, Newborn ; Transcription Factors/genetics ; Whole Genome Sequencing/methods

المؤلفون: Zhang C; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Jolly A; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Medical Scientist Training Program, BCM, Houston, TX 77030, USA., Shayota BJ; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Mazzeu JF; University of Brasilia, Brasilia 70050, Brazil.; Robinow Syndrome Foundation, Anoka, MN 55303, USA., Du H; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Dawood M; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Medical Scientist Training Program, BCM, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Soper PC; GeneDx Inc., Gaithersburg, MD 20878, USA., Ramalho de Lima A; University of Brasilia, Brasilia 70050, Brazil., Ferreira BM; University of Brasilia, Brasilia 70050, Brazil., Coban-Akdemir Z; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, UTHealth, Houston, TX 77030, USA., White J; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Thomson FR; Cardiothoracic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Douglas SL; NHS Lothian, Edinburgh EH1 3EG, UK., Wainwright A; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Bailey K; Pediatric Rheumatology, Nuffield Orthopedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Wordsworth P; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Botnar Research Centre, Oxford OX3 7LD, UK., Oldridge M; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Lester T; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Calder AD; Radiology Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Dumic K; Department of Pediatric Endocrinology and Diabetes, University Clinical Center Zagreb, Zagreb 10000, Croatia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK.; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Donnai D; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jhangiani SN; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Potocki L; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, NY 10032, USA., Mora S; GeneDx Inc., Gaithersburg, MD 20878, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Ashfaq M; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Mason K; GeneDx Inc., Gaithersburg, MD 20878, USA.; Arnold Palmer Hospital for Children, Orlando, FL 32806, USA., Pollack LC; Arnold Palmer Hospital for Children, Orlando, FL 32806, USA., McConkie-Rosell A; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., Kelly W; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., McDonald M; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., Leahy P; Cook Children's Hospital, Fort Worth, TX 76104, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA., Boy R; State University of Rio de Janeiro, Rio de Janeiro 21941, Brazil., Honjo RS; Unidade de Genética, Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, University of Sao Paulo, São Paulo 05508, Brasil., Kok F; Mendelics Análise Genômica, São Paulo 04013, Brasil., Martelli LR; Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, São Paulo 05508, Brazil., Filho VO; Instituto de Tratamento do Câncer Infantil, São Paulo University Medical School, Hospital Israelita Albert Einstein, São Paulo 05508, Brasil., Genomics England Research Consortium; Genomics England and William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Muzny DM; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Liu P; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA., Lupski JR; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.; Department of Pediatrics, BCM, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Carvalho CMB; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Pacific Northwest Research Institute (PNRI), Seattle, WA 98122, USA.

المصدر: HGG advances [HGG Adv] 2021 Dec 03; Vol. 3 (1), pp. 100074. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

المؤلفون: Lim J; Division of Pediatric Neurology and Developmental Neurosciences, 3989Baylor College of Medicine, Houston, TX, USA., Shayota BJ; Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.; 3984Texas Children's Hospital, Houston, TX, USA., Lay E; Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.; 3984Texas Children's Hospital, Houston, TX, USA., Elsea SH; Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA., Bekheirnia MR; Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.; 3984Texas Children's Hospital, Houston, TX, USA.; Renal Section, Department of Pediatrics, 3989Baylor College of Medicine, Houston, TX, USA., Tessier MEM; Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition 3989Baylor College of Medicine Houston TX, USA., Kralik SF; Department of Radiology, 3984Texas Children's Hospital, Houston, TX, USA., Rice GM; Department of Pediatrics and the Waisman Center, 5232University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Soler-Alfonso C; Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.; 3984Texas Children's Hospital, Houston, TX, USA., Scaglia F; Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.; 3984Texas Children's Hospital, Houston, TX, USA.; Joint 3989BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR.

المصدر: Journal of child neurology [J Child Neurol] 2021 Sep; Vol. 36 (10), pp. 841-852. Date of Electronic Publication: 2021 Apr 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Brain/*diagnostic imaging , Brain/*physiopathology , Brain Diseases, Metabolic, Inborn/*diagnostic imaging , Brain Diseases, Metabolic, Inborn/*physiopathology , Magnetic Resonance Imaging/*methods , Purpura/*diagnostic imaging , Purpura/*physiopathology , Stroke/*diagnostic imaging, Adolescent ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Stroke/physiopathology ; Time

SCR Disease Name: Ethylmalonic encephalopathy

المؤلفون: Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas., Xiao J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Gijavanekar C; Baylor Genetics, Houston, Texas., Pappan KL; Metabolon, Inc, Durham, North Carolina.; Now with Owlstone Medical, Inc, Research Triangle Park, North Carolina., Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Shayota BJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Now with Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City., Kennedy AD; Metabolon, Inc, Durham, North Carolina., Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.

المصدر: JAMA network open [JAMA Netw Open] 2021 Jul 01; Vol. 4 (7), pp. e2114155. Date of Electronic Publication: 2021 Jul 01.

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

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Mass Screening/*methods , Metabolism, Inborn Errors/*diagnosis , Metabolomics/*methods, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Infant ; Male ; Mass Screening/standards ; Mass Screening/statistics & numerical data ; Metabolism, Inborn Errors/diet therapy ; Metabolomics/statistics & numerical data ; Middle Aged