ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
about
Clinical and Molecular Characterization of ALG1-CDG.Genomic diagnosis for children with intellectual disability and/or developmental delayLiver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.CDG Therapies: From Bench to Bedside.
P2860
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
description
2016 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im Juli 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2016/07/01)
@nl
наукова стаття, опублікована в липні 2016
@uk
مقالة علمية (نشرت في يوليو 2016)
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name
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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type
label
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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prefLabel
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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P2093
P2860
P50
P356
P1433
P1476
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
@en
P2093
Agata Fiumara
Alexander J. Fay
Alina T. Midro
Amarilis Sanchez-Valle
Andrew J. Kornberg
Arve Vøllo
Bobby G. Ng
Can Ficicioglu
Charles J. Waechter
Christina Lam
P2860
P304
P356
10.1002/HUMU.22983
P577
2016-07-01T00:00:00Z