The relationship of genotype to cognitive outcome in galactosaemia.
about
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.Sweet and sour: an update on classic galactosemia.Neonatal Screening: Cost-utility Analysis for GalactosemiaFrom mind to mouth: event related potentials of sentence production in classic galactosemia.Correlates of language impairment in children with galactosaemia.The adult galactosemic phenotypeCryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemiaDiversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesClinical, molecular, and genetic evaluation of galactosemia in Turkish children.Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
P2860
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P2860
The relationship of genotype to cognitive outcome in galactosaemia.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
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2000年學術文章
@yue
2000年學術文章
@zh-hant
name
The relationship of genotype to cognitive outcome in galactosaemia.
@en
The relationship of genotype to cognitive outcome in galactosaemia.
@nl
type
label
The relationship of genotype to cognitive outcome in galactosaemia.
@en
The relationship of genotype to cognitive outcome in galactosaemia.
@nl
prefLabel
The relationship of genotype to cognitive outcome in galactosaemia.
@en
The relationship of genotype to cognitive outcome in galactosaemia.
@nl
P2093
P2860
P356
P1476
The relationship of genotype to cognitive outcome in galactosaemia.
@en
P2093
MacDonald A
Stephenson A
Wadsworth EJ
P2860
P304
P356
10.1136/ADC.83.3.248
P407
P577
2000-09-01T00:00:00Z