Výsledky vyhledávání - "Yoav Ben-Yoseph"

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease

Autor: R. Gagne, M. R. Parvathy, Yoav Ben-Yoseph, Deborah A. Mitchell, Toru Momoi

Publikováno v: Clinical Genetics. 36:38-42

Severe deficiency of acid ceramidase activity (4-5% of normal) was demonstrated in cultured skin fibroblasts, leukocytes and plasma from a 1-year-old boy who was diagnosed as being affected with Farber disease. Determination of ceramidase activity in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca11ee3fe204ae3f5aa4f28a8975047
https://doi.org/10.1111/j.1399-0004.1989.tb03364.x

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First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay

Autor: Henry L. Nadler, Deborah A. Mitchell, Yoav Ben-Yoseph

Publikováno v: Clinical Genetics. 33:38-43

First trimester prenatal diagnosis was offered to a couple at risk for having a child with I-cell disease (mucolipidosis II). The prenatal evaluation was based for the first time on examination of N-acetylglucosamine 1-phosphotransferase activity, de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8e337be15c1e4ad026d302f2f9b080
https://doi.org/10.1111/j.1399-0004.1988.tb04262.x

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Metabolism of Glycosaminoglycans and Proteoglycans in Tissues of Cystic Fibrosis Patients1

Autor: Henry L. Nadler, Yoav Ben-Yoseph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cd90636569e95471810ce4171b8b624
https://doi.org/10.1159/000406297

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Intrauterine fetal death due to Farber disease: case report

Autor: Koert P. Dingemans, G. Johan A. Offerhaus, Gesina van Lijnschoten, Yoav Ben-Yoseph, Johanna E. M. Groener, Saskia M. Maas

Publikováno v: Pediatric and developmental pathology, 3(6), 597-602. Society for Pediatric Pathology

We report a case of Farber disease in a fetus who died in utero at a gestational age of 29 weeks. Macroscopic examination showed moderate postmortem changes in a microcephalic female fetus (46,XX) with mild internal hydrops, two vessels in the umbili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c3d5e2908e4309a51c68249cd3405a
https://doi.org/10.1007/s100240010107

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Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers

Autor: Yoav Ben-Yoseph, Deborah A. Mitchell

Publikováno v: Clinica Chimica Acta. 226:77-82

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::262bc47e9cab3a0c6df3f9808a7d3829
https://doi.org/10.1016/0009-8981(94)90104-x

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Stimulation of G(M3) Ganglioside Sialidase Activity by an Activator Protein in Patients with Mucolipidosis IV and Controls

Autor: Robert Pretzlaff, Rebecca M. Yager, Deborah A. Mitchell, Yoav Ben-Yoseph

Publikováno v: Enzyme. 45:23-29

An activator protein that stimulates the enzymic hydrolysis of sialic acid from gangliosides by ganglioside sialidase was fractionated from human liver. This fraction was distinct from those stimulating the hydrolysis of galactose from GM1 gangliosid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b2e801d5d036722be873dfc1740cf0f
https://doi.org/10.1159/000468861

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Wolman disease successfully treated by bone marrow transplantation

Autor: Yoav Ben-Yoseph, Kathryn E. Dusenbery, Charles Peters, John E. Wagner, N. K. C. Ramsay, William Krivit, R. Anderson

Publikováno v: Bone marrow transplantation. 26(5)

Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the cause of the symptoms and signs. It is inherited in an autosomal recessive manner. All Wolman disease patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c883384a001e785ac0eaf6f6889c681
https://pubmed.ncbi.nlm.nih.gov/11019848

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Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

Autor: Edwin H. Kolodny, Hillard M. Lazarus, Omer N. Koc, Arnold I. Caplan, Paul A. Watkins, Stanton L. Gerson, William Krivit, Yoav Ben-Yoseph, Charles Peters, Shrini Raghavan, Stephanie M. Dyhouse, Rita DeGasperi, Patrick Aubourg

Publikováno v: Experimental hematology. 27(11)

Human bone marrow contains mesenchymal stem cells (MSCs) that can differentiate into various cells of mesenchymal origin. We developed an efficient method of isolating and culture expanding a homogenous population of MSCs from bone marrow and determi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b143ff95d0cf6326ded347bb398e4a1
https://pubmed.ncbi.nlm.nih.gov/10560915

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Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments

Autor: Deborah A. Mitchell, Yoav Ben-Yoseph

Publikováno v: The American journal of the medical sciences. 309(2)

Mutations causing metachromatic leukodystrophy and pseudo-deficiency were detected in the arylsulfatase A gene by methods based on different wild-type and mutant restriction sites. After polymerase chain reaction amplification of fragments of the ary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a81a379570645fce3305803b681a6433
https://pubmed.ncbi.nlm.nih.gov/7847447

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