المؤلفون: Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer

المصدر: JIMD Reports, Vol 64, Iss 1, Pp 114-120 (2023)

مصطلحات موضوعية: isovaleric aciduria, IVA, newborn screening, pivaloylcarnitine, second‐tier, UPLC‐MS/MS, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/d64f6f1ad0a343af9d17e4700b645e82

المؤلفون: Hörster, Friederike^Aff1, Kölker, Stefan^Aff1, Loeber, J. Gerard^Aff2, Cornel, Martina C.^Aff3, Hoffmann, Georg F.^Aff1, Burgard, Peter^Aff1

المساهمون: Baumgartner, Matthias R., Series editor^Aff11, Patterson, Marc, Series editor^{Aff12, Aff19}, Rahman, Shamima, Series editor^{Aff13, Aff20}, Peters, Verena, Series editor^{Aff14, Aff22}, Morava, Eva, Editor-in-chief^{Aff15, Aff17}, Zschocke, Johannes, Series editor^{Aff16, Aff21}, Baumgartner, Matthias, editor^Aff18

المصدر: JIMD Reports, Volume 32. 32:105-115

المؤلفون: Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu

المصدر: Journal of Pediatric Research, Vol 5, Iss 1, Pp 47-50 (2018)

مصطلحات موضوعية: Inborn erors of metabolism, Niemann-Pick Type C, isovaleric aciduria, consanguinity, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpedres.org/archives/archive-detail/article-preview/double-hit-homozygous-mutations-for-two-different-/18777; https://doaj.org/toc/2147-9445; https://doaj.org/toc/2587-2478

URL الوصول: https://doaj.org/article/7d26e2b97e644e8b87cb9f630e1004d2

المؤلفون: Tuncel, Ali Tunç, Boy, Nikolas, Morath, Marina A., Hörster, Friederike, Mütze, Ulrike, Kölker, Stefan^Aff1

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. 41(5):765-776

المؤلفون: Sinclair, Graham B., Ester, Manuel, Horvath, Gabriella, Karnebeek, Clara D. van, Stockler-Ipsirogu, Sylvia, Vallance, Hilary

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2016 4

مصطلحات موضوعية: newborn screening, guanidinoacetate, second tier, isovaleric aciduria, MSUD, GAMT deficiency

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100310

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المؤلفون: Lászlová, Katarína, Ostrožlíková, Mária, Górová, Renáta, Brennerová, Katarína, Bzdúch, Vladimír, Šebová, Claudia

مصطلحات موضوعية: izovalerová acidúria / isovaleric aciduria, izovalerylkarnitín / isovalerylcarnitin, second-tier test

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050c5e65119cb7b274009462f2a79fb6

المؤلفون: Siliprandi, Noris^Aff2, Venerando, R.^Aff3, Tassani, V.^Aff2

المساهمون: Felipo, Vicente, editor^Aff1, Grisolia, Santiago, editor^Aff1

المصدر: Hepatic Encephalopathy, Hyperammonemia, and Ammonia Toxicity. 368:161-164

المؤلفون: Vaidyanathan, Kannan, Narayanan, M. P., Vasudevan, D. M.

المصدر: Indian Journal of Clinical Biochemistry. October 2011 26(4):319-325

المؤلفون: Alev Hasanoglu, Asburce Olgac, Gürsel Biberoğlu, Serdar Ceylaner, Leyla Tümer

المصدر: Journal of Pediatric Research, Vol 5, Iss 1, Pp 47-50 (2018)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Double hit, Inborn erors of metabolism, business.industry, lcsh:R, lcsh:RJ1-570, nutritional and metabolic diseases, lcsh:Medicine, lcsh:Pediatrics, consanguinity, hemic and lymphatic diseases, isovaleric aciduria, medicine, Niemann-Pick Type C, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc005a93966e6c91878150453348e12
https://doi.org/10.4274/jpr.55477