Výsledky vyhledávání - "Crabben, S.N. van der"

A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

Autor: Hauth, I.G., Waterham, H.R., Wanders, R.J., Crabben, S.N. van der, Karnebeek, C.D. van

Publikováno v: Cold Spring Harbor Molecular Case Studies, 8
Cold Spring Harbor Molecular Case Studies, 8, 2

Contains fulltext : 287941.pdf (Publisher’s version ) (Open Access) Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive inherited metabolic disorder (IMD) of which the phenotypic spectrum and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::857217307b76ab84cc720973a422c171
https://hdl.handle.net/2066/287941

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Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Autor: Kempers, M.J.E., Crabben, S.N. van der, Vroede, M. de, Alfen-van der Velden, J., Netea-Maier, R.T., Duim, R.A.J., Otten, B.J., Losekoot, M., Wit, J.M.

Publikováno v: Hormone Research in Paediatrics, 80, 6, pp. 390-6
Hormone Research in Paediatrics, 80, 390-6
Hormone Research in Paediatrics, 80(6), 390-396

Item does not contain fulltext BACKGROUND: Congenital isolated growth hormone deficiency (IGHD) is a rare endocrine disorder that presents with severe proportionate growth failure. Dominant (type II) IGHD is usually caused by heterozygous mutations o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8a8f7828d30dbcaf29c6d9faab92c4ab
https://hdl.handle.net/1887/99875

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