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Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.Sweet and sour: an update on classic galactosemia.Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical diseaseLanguage production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions.From mind to mouth: event related potentials of sentence production in classic galactosemia.Ovarian function in girls and women with GALT-deficiency galactosemiaLong-term speech and language developmental issues among children with Duarte galactosemia.Recommendations for the management of galactosaemia. UK Galactosaemia Steering GroupResponse to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison.Correlates of language impairment in children with galactosaemia.Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Cryptic 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 outcomesAcute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?Structural and molecular biology of type I galactosemia: disease-associated mutations.Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.GALK inhibitors for classic galactosemia.Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.Galactosemia, a single gene disorder with epigenetic consequences.Appropriateness of newborn screening for classic galactosaemia: a systematic review.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.Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia.Classic galactosemia: dietary dilemmas.Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model.The relationship of genotype to cognitive outcome in galactosaemia.Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.Skeletal health in adult patients with classic galactosemia.Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.Scientific Opinion on lactose thresholds in lactose intolerance and galactosaemiaMovement disorders in adult patients with classical galactosemia.Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.
P2860
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P2860
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Long-term outcome in 134 patients with galactosaemia.
@en
type
label
Long-term outcome in 134 patients with galactosaemia.
@en
prefLabel
Long-term outcome in 134 patients with galactosaemia.
@en
P2093
P356
P1476
Long-term outcome in 134 patients with galactosaemia.
@en
P2093
P2888
P356
10.1007/BF02072514
P577
1993-01-01T00:00:00Z