Lactosylceramidosis

Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

Glyn Dawson, Reuben Matalon, Arthur O. Stein

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

Original languageEnglish (US)
Pages (from-to)423-429
Number of pages7
JournalThe Journal of pediatrics
Volume79
Issue number3
DOIs
StatePublished - 1971
Externally publishedYes

Fingerprint

Fibroblasts
Skin
Cultured Cells
Parents
Bone Marrow
Lipids
lactosylceramidase
CDw17 antigen

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Lactosylceramidosis : Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts. / Dawson, Glyn; Matalon, Reuben; Stein, Arthur O.

In: The Journal of pediatrics, Vol. 79, No. 3, 1971, p. 423-429.

Research output: Contribution to journalArticle

@article{fab7a960d02749daa84a4d39ded51a56,
title = "Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts",
abstract = "Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.",
author = "Glyn Dawson and Reuben Matalon and Stein, {Arthur O.}",
year = "1971",
doi = "10.1016/S0022-3476(71)80151-8",
language = "English (US)",
volume = "79",
pages = "423--429",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "3",

}

TY - JOUR

T1 - Lactosylceramidosis

T2 - Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

AU - Dawson, Glyn

AU - Matalon, Reuben

AU - Stein, Arthur O.

PY - 1971

Y1 - 1971

N2 - Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

AB - Fibroblasts were cultured from skin and bone marrow of a patient with an unusual neurovisceral lipid storage disease, characterized by the accumulation of lactosylceramide and a deficiency of lactosylceramide galactosyl hydrolase. The fibroblasts were found to manifest the defect both chemically and enzymically. Biochemical studies of cells cultured from the patient's parents indicated that the disease was inherited in an autosomal recessive manner.

UR - http://www.scopus.com/inward/record.url?scp=0015122002&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0015122002&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(71)80151-8

DO - 10.1016/S0022-3476(71)80151-8

M3 - Article

VL - 79

SP - 423

EP - 429

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 3

ER -