Výsledky vyhledávání

Sjögren-Larsson syndrome: Technique and timing of prenatal diagnosis

Autor: K, Tabsh, W B, Rizzo, K, Holbrook, N, Theroux

Publikováno v: Obstetrics & Gynecology. 82:700-703

Sjögren-Larsson syndrome is an autosomal recessive disease with sequelae including ichthyosis, mental retardation, and spasticity. Although fetal skin biopsy has permitted prenatal diagnosis of Sjögren-Larsson syndrome in the late second trimester,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c744f92207ad36366978248c63994dd1
https://doi.org/10.1097/00006250-199310020-00025

Zobrazit plný text záznamu

Unusual clinical presentation in two cases of multiple sulfatase deficiency

Autor: C. Medina, M.R. Rivera-Vega, Sergio A. Cuevas-Covarrubias, M. Valdes-Flores, Susana Kofman-Alfaro, W. B. Rizzo, M. E. Blanco-Aguirre

Publikováno v: Pediatric dermatology. 18(5)

Multiple sulfatase deficiency (MSD) is an inborn error of metabolism that combines the clinical features of late infantile metachromatic leukodystrophy and mucopolysaccharidosis. The characteristic biochemical abnormality is a reduction in the activi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2928fc4c9152d977382b72fc0fcd89
https://pubmed.ncbi.nlm.nih.gov/11737681

Zobrazit plný text záznamu

Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma

Autor: W B, Rizzo, D A, Craft

Publikováno v: Journal of lipid research. 41(7)

Sjögren-Larsson syndrome (SLS) is an inherited disorder associated with deficient oxidation of long-chain aliphatic alcohols. Previous studies have reported modest elevations in total (free + esterified) fatty alcohols in SLS, but free fatty alcohol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8d34b249d84944cb14a0301c26785c10
https://pubmed.ncbi.nlm.nih.gov/10884288

Zobrazit plný text záznamu

[Sjögren-Larsson syndrome]

Autor: M, Möhrenschlager, W B, Rizzo, C S, Kraus, J, Limbrock, M, Cohen, I, Anton-Lamprecht, D, Abeck, J, Ring

Publikováno v: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 51(4)

This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::749384e81f78ab1aa8801f0092d38c36
https://pubmed.ncbi.nlm.nih.gov/10810660

Zobrazit plný text záznamu

Proton MR spectroscopy of Sjögren-Larsson's syndrome

Autor: T, Mano, J, Ono, T, Kaminaga, K, Imai, K, Sakurai, K, Harada, T, Nagai, W B, Rizzo, S, Okada

Publikováno v: AJNR Am J Neuroradiol

Summary: We performed single-voxel proton MR spectroscopy ((1)H-MRS) in two children with Sjögren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3bf3b7af0d24550fc414bf12b43d11be
https://pubmed.ncbi.nlm.nih.gov/10543638

Zobrazit plný text záznamu

Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?

Autor: Jean-Pierre Fryns, W B Rizzo, Lieven Lagae

Publikováno v: Clinical dysmorphology. 7(4)

We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, posta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88cfdcaa73467c8ae2a0ed3b4c5dfc2d
https://pubmed.ncbi.nlm.nih.gov/9823494

Zobrazit plný text záznamu

Sjögren-Larsson syndrome

Autor: W B, Rizzo

Publikováno v: Seminars in dermatology. 12(3)

Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The ichthyosis is generalized in distribution, and histological featur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1139a109d553ce233e847c17bfef9808
https://pubmed.ncbi.nlm.nih.gov/8217559

Zobrazit plný text záznamu

Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease

Autor: S, Emami, W B, Rizzo, K P, Hanley, J M, Taylor, M E, Goldyne, M L, Williams

Publikováno v: Archives of dermatology. 128(9)

Peroxisomal deficiency has been described in a number of syndromes characterized by chondrodysplasia punctata, including the Conradi-Hünermann (C-H) syndrome. Because of overlapping clinical features of X-chromosome inheritance, ichthyosis, and limb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d3376d7c2d7045ace585a65b1c6d6cb4
https://pubmed.ncbi.nlm.nih.gov/1519936

Zobrazit plný text záznamu

Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes

Autor: R A, Zoeller, S, Rangaswamy, H, Herscovitz, W B, Rizzo, A K, Hajra, A K, Das, H W, Moser, A, Moser, P B, Lazarow, M J, Santos

Publikováno v: The Journal of biological chemistry. 267(12)

We have used a fluorescence-activated cytotoxicity protocol, 9-(1'-pyrene)nonanol (P9OH)/UV selection (Morand, O. H., Allen, L.-A. H., Zoeller, R. A., and Raetz, C. R. H. (1990) Biochim. Biophys. Acta 1034, 132-141), to isolate a series of plasmaloge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e99701cbf73b8009976c0b8762f0cbe9
https://pubmed.ncbi.nlm.nih.gov/1569085

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání