المؤلفون: Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee885b0d68dee3f4a3fcd68be1a6fb2e
https://doi.org/10.1530/ey.19.5.7

المؤلفون: Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kintzinger K; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Hackbarth ME; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Botschen U; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Nitschke Y; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Mughal MZ; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Baujat G; Centre de Référence Maladies Osseuses Constitutionnelles (CR MOC) et Filière OSCAR, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France., Schnabel D; Center for Chronically Sick Children, Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Yuen E; Inozyme Pharma, Inc., Boston, MA, USA., Gahl WA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gafni RI; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA., Liu Q; Quantitative & Regulatory Medical Science, LLC, Long Valley, NJ, USA., Huertas P; Inozyme Pharma, Inc., Boston, MA, USA., Khursigara G; Inozyme Pharma, Inc., Boston, MA, USA., Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2021 Nov; Vol. 36 (11), pp. 2193-2202. Date of Electronic Publication: 2021 Aug 16.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/diagnostic imaging , Familial Hypophosphatemic Rickets*/genetics , Multidrug Resistance-Associated Proteins*/deficiency , Multidrug Resistance-Associated Proteins*/genetics , Phosphoric Diester Hydrolases*/deficiency , Phosphoric Diester Hydrolases*/genetics , Pyrophosphatases*/deficiency , Pyrophosphatases*/genetics , Vascular Calcification*/diagnostic imaging , Vascular Calcification*/genetics, Humans ; Infant ; Mutation

المؤلفون: Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States. Electronic address: mhuizing@mail.nih.gov., Hackbarth ME; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States., Adams DR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States., Wasserstein M; Departments of Pediatrics and Genetics, The Children's Hospital at Montefiore, Bronx, NY, 10467, United States; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States., Patterson MC; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States., Walkley SU; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.

مؤلفون مشاركون: FSASD Consortium

المصدر: Neuroscience letters [Neurosci Lett] 2021 Jun 11; Vol. 755, pp. 135896. Date of Electronic Publication: 2021 Apr 20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Scientific Publishers Ireland Country of Publication: Ireland NLM ID: 7600130 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7972 (Electronic) Linking ISSN: 03043940 NLM ISO Abbreviation: Neurosci Lett Subsets: MEDLINE

مواضيع طبية MeSH: Organic Anion Transporters/*metabolism , Sialic Acid Storage Disease/*diagnostic imaging , Sialic Acid Storage Disease/*metabolism , Symporters/*metabolism, Animals ; Genetic Therapy/trends ; Humans ; N-Acetylneuraminic Acid/genetics ; N-Acetylneuraminic Acid/metabolism ; Organic Anion Transporters/genetics ; Sialic Acid Storage Disease/genetics ; Sialic Acid Storage Disease/therapy ; Stem Cell Transplantation/trends ; Symporters/genetics

SCR Disease Name: Free sialic acid storage disease

المؤلفون: Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. ferreiracr@mail.nih.gov., Hackbarth ME; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ziegler SG; Departments of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Pan KS; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA., Roberts MS; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA., Rosing DR; Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Whelpley MS; Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Bryant JC; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Macnamara EF; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wang S; ICON plc, Vancouver, BC, Canada., Müller K; ICON plc, Vancouver, BC, Canada., Hartley IR; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA., Chew EY; Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Corden TE; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Jacobsen CM; Divisions of Endocrinology and Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Holm IA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA, USA., Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany., Dikoglu E; Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Chen MY; Cardiovascular CT Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Mughal MZ; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK., Levine MA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Gafni RI; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 396-407. Date of Electronic Publication: 2020 Oct 02.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Phosphoric Diester Hydrolases*/genetics , Pyrophosphatases*/genetics, Adolescent ; Adult ; Female ; Fibroblast Growth Factor-23 ; Humans ; Mutation ; Pregnancy ; Prospective Studies ; Survivors ; Vascular Calcification

SCR Disease Name: Arterial calcification of infancy