Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study
about
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.Pathobiology of the stratum corneum.Sjögren-Larsson syndrome: A study of clinical symptoms in six children.Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic originsIchthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.Hereditary spastic paraparesis: a review of new developments.The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanalNovel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.The role of fatty aldehyde dehydrogenase in epidermal structure and function.Large contiguous gene deletions in Sjögren-Larsson syndromeSjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic originsSegmentation of Retinal Layers in Sjögren-Larsson Syndrome.Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementiaHereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.Strumpell's pure familial spastic paraplegia: case study and review of the literature.Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.Sjogren - Larsson Syndrome.Karl Gustaf Torsten Sjögren and Sjögren-Larsson syndrome.Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds.Sjogren-Larsson syndrome: A case report of a rare disease.Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome.Bibliography of Human Genetics*.Atypical Presentation of Sjögren-Larsson Syndrome.A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters.Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
P2860
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P2860
Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study
description
1957 nî lūn-bûn
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1957 թուականին հրատարակուած գիտական յօդուած
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1957 թվականին հրատարակված գիտական հոդված
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1957年の論文
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1957年論文
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1957年論文
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1957年論文
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1957年論文
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1957年論文
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name
Oligophrenia in combination wi ...... ; a clinical and genetic study
@ast
Oligophrenia in combination wi ...... ; a clinical and genetic study
@en
Oligophrenia in combination wi ...... ; a clinical and genetic study
@nl
type
label
Oligophrenia in combination wi ...... ; a clinical and genetic study
@ast
Oligophrenia in combination wi ...... ; a clinical and genetic study
@en
Oligophrenia in combination wi ...... ; a clinical and genetic study
@nl
prefLabel
Oligophrenia in combination wi ...... ; a clinical and genetic study
@ast
Oligophrenia in combination wi ...... ; a clinical and genetic study
@en
Oligophrenia in combination wi ...... ; a clinical and genetic study
@nl
P1476
Oligophrenia in combination wi ...... ; a clinical and genetic study
@en
P2093
P407
P577
1957-01-01T00:00:00Z