Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
about
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaLysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literatureAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationFurther Delineation of the ALG9-CDG Phenotype.Congenital protein hypoglycosylation diseases.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.TMEM165 Deficiency: Postnatal Changes in Glycosylation.Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).PMM2-CDG and sensorineural hearing loss.Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
P2860
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P2860
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@en
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@nl
type
label
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@en
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@nl
prefLabel
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@en
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@nl
P2093
P2860
P921
P356
P1476
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
@en
P2093
B J H M Poorthuis
D J Lefeber
G J G Ruijter
G Matthijs
J M van de Kamp
N S den Hollander
R A Wevers
S J Steggerda
S M Willems
P2860
P304
P356
10.1136/JMG.2006.044735
P407
P577
2006-12-08T00:00:00Z