Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
about
Neurology of inherited glycosylation disorders.Disease variants in genomes of 44 centenarians.Endocrine manifestations related to inherited metabolic diseases in adults.ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.Congenital protein hypoglycosylation diseases.Congenital disorders of glycosylation and intellectual disability.Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
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P2860
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 03 February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
@en
Pubertal development in ALG6 deficiency
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type
label
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
@en
Pubertal development in ALG6 deficiency
@nl
prefLabel
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
@en
Pubertal development in ALG6 deficiency
@nl
P2860
P1476
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
@en
P2093
Georg F Hoffmann
Kyriakie Sarafoglou
P2860
P304
P356
10.1016/J.YMGME.2011.01.016
P577
2011-02-03T00:00:00Z