المؤلفون: Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)

مصطلحات موضوعية: Mitochondrial disorders, Aspartyl tRNA synthetase deficiency, Aminoacyl tRNA synthetase deficiency, Leukodystrophy, Splicing mutations, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692300071X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Fuchs, Sabine A.^Aff1, Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(2):319-330

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann

المساهمون: Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins

مصطلحات موضوعية: medicine.medical_specialty, HOMEOSTASIS, Microcytic anemia, Medizin, Disease, Gastroenterology, DISEASE, MECHANISMS, TRANSFER-RNA SYNTHETASES, Seizures, Internal medicine, Genotype, medicine, Humans, Stroke, Genetics (clinical), RECESSIVE MUTATIONS, medicine.diagnostic_test, Muscular hypotonia, business.industry, infantile liver failure syndrome type 1, Magnetic resonance imaging, LARS1, acute liver failure, medicine.disease, Phenotype, aminoacyl-tRNA synthetase deficiency, Mutation, ONSET, Muscle Hypotonia, business, Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke, metabolic stroke, Liver Failure, Homeostasis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a283fec073d0bfac9ee14639992eed
https://research.rug.nl/en/publications/03f5a315-5c5a-4d2f-8e51-7646d711e249

المؤلفون: Jurriaan M. Jansen, David A. Koolen, Imre F. Schene, Koen L.I. van Gassen, Maaike de Vries, Laetitia E. M. Niers, Peter G. J. Nikkels, Margot F. Mulder, Suzanne W J Terheggen-Lagro, Sabine A. Fuchs, Sanne E. Hoeks, Peter M. van Hasselt, Saskia N. van der Crabben, Gautam Kok, Roderick H. J. Houwen, Nicole I. Wolf

المساهمون: Paediatric Pulmonology, Human Genetics, General Paediatrics, Paediatric Metabolic Diseases, Human genetics, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Erasmus MC other, Pediatrics, Surgery

المصدر: Genetics in Medicine, 21, 2, pp. 319-330
Genetics in Medicine
Genetics in medicine, 21(2), 319-330. Lippincott Williams and Wilkins
Genetics in Medicine, 21(2), 319-330. Lippincott Williams and Wilkins
Fuchs, S A, Schene, I F, Kok, G, Jansen, J M, Nikkels, P G J, van Gassen, K L I, Terheggen-Lagro, S W J, van der Crabben, S N, Hoeks, S E, Niers, L E M, Wolf, N I, de Vries, M C, Koolen, D A, Houwen, R H J, Mulder, M F & van Hasselt, P M 2019, ' Aminoacyl-tRNA synthetase deficiencies in search of common themes ', Genetics in Medicine, vol. 21, no. 2, pp. 319-330 . https://doi.org/10.1038/s41436-018-0048-y
Genetics in Medicine, 21(2), 319-330. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 319-330
Genetics in Medicine, 21(2), 319. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, Male, Inborn/enzymology, Disease, Compound heterozygosity, Bioinformatics, Liver disease, 0302 clinical medicine, Central Nervous System Diseases, Clinical phenotype, HARS, Amino Acyl-tRNA Synthetases/deficiency, Genetics(clinical), Hypoalbuminemia, Feeding and Eating Disorders/enzymology, Child, Non-U.S. Gov't, Growth Disorders, Genetics (clinical), Liver Diseases, Research Support, Non-U.S. Gov't, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Phenotype, Liver Diseases/enzymology, 3. Good health, Genetic Diseases, Failure to thrive, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Growth Disorders/enzymology, Cytosolic translation, Aminoacyl-tRNA synthetase deficiency, Genes, Recessive, Research Support, Central Nervous System Diseases/enzymology, Article, Amino Acyl-tRNA Synthetases, Feeding and Eating Disorders, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Tubulopathy, medicine, Journal Article, Recessive, Humans, business.industry, Genetic Diseases, Inborn, Failure to Thrive/enzymology, medicine.disease, Failure to Thrive, 030104 developmental biology, Genes, business, 030217 neurology & neurosurgery, Genetic Diseases, Inborn/enzymology

وصف الملف: image/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cfaf94358fd9d3280449af5e9f46bad
https://pure.eur.nl/en/publications/6bf04a63-9140-41b6-85c7-e8764f36cd07

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Huang WL; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Steenari MR; Division of Neurology, CHOC Children's, Orange, CA, United States.; Department of Pediatrics, University of California Irvine, Orange, CA, United States., Barrick R; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Simon MT; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Chang R; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.; Department of Pediatrics, University of California Irvine, Orange, CA, United States., Eftekharian SS; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Stover A; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Schwartz PH; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Latini A; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.; Laboratório de Bioenergética e Estresse Oxidativo - LABOX, Departamento de Bioquímica, Centro de Ciências Biológicas, Universidade Federal de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Abdenur JE; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.; Department of Pediatrics, University of California Irvine, Orange, CA, United States.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Dec 02; Vol. 38, pp. 101025. Date of Electronic Publication: 2023 Dec 02 (Print Publication: 2024).

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