The Mucolipidoses

Reuben Matalon; Kimberlee Michals Matalon

doi:10.1016/B978-0-12-410529-4.00032-2

The Mucolipidoses

Reuben Matalon, Kimberlee Michals Matalon

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

The mucolipidoses emerged as a unique group of inherited disorders that originally were considered to be part of the mucopolysaccharidoses. The storage material within tissues or cultured skin fibroblasts includes lipids and glycosaminoglycans. These disorders are not characterized by mucopolysacchariduria.

Original language	English (US)
Title of host publication	Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Fifth Edition
Publisher	Elsevier Inc.
Pages	365-368
Number of pages	4
ISBN (Electronic)	9780124105294
ISBN (Print)	9780124105492
DOIs	https://doi.org/10.1016/B978-0-12-410529-4.00032-2
State	Published - Nov 13 2014

Keywords

Glycosaminoglycan
Lysosomal enzyme trafficking
Mannose 6-phosphate
Mucolipin 1
N-acetylglu-cosaminyl-1-phosphotransferase
Pseudo-Hurler polydystrophy
Sialidoses

ASJC Scopus subject areas

General Medicine

Access to Document

10.1016/B978-0-12-410529-4.00032-2

Cite this

@inbook{4681015250c14a8f81d8f30d9baa2916,

title = "The Mucolipidoses",

abstract = "The mucolipidoses emerged as a unique group of inherited disorders that originally were considered to be part of the mucopolysaccharidoses. The storage material within tissues or cultured skin fibroblasts includes lipids and glycosaminoglycans. These disorders are not characterized by mucopolysacchariduria.",

keywords = "Glycosaminoglycan, Lysosomal enzyme trafficking, Mannose 6-phosphate, Mucolipin 1, N-acetylglu-cosaminyl-1-phosphotransferase, Pseudo-Hurler polydystrophy, Sialidoses",

author = "Reuben Matalon and Matalon, {Kimberlee Michals}",

year = "2014",

month = nov,

day = "13",

doi = "10.1016/B978-0-12-410529-4.00032-2",

language = "English (US)",

isbn = "9780124105492",

pages = "365--368",

booktitle = "Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease",

publisher = "Elsevier Inc.",

}

TY - CHAP

T1 - The Mucolipidoses

AU - Matalon, Reuben

AU - Matalon, Kimberlee Michals

PY - 2014/11/13

Y1 - 2014/11/13

N2 - The mucolipidoses emerged as a unique group of inherited disorders that originally were considered to be part of the mucopolysaccharidoses. The storage material within tissues or cultured skin fibroblasts includes lipids and glycosaminoglycans. These disorders are not characterized by mucopolysacchariduria.

AB - The mucolipidoses emerged as a unique group of inherited disorders that originally were considered to be part of the mucopolysaccharidoses. The storage material within tissues or cultured skin fibroblasts includes lipids and glycosaminoglycans. These disorders are not characterized by mucopolysacchariduria.

KW - Glycosaminoglycan

KW - Lysosomal enzyme trafficking

KW - Mannose 6-phosphate

KW - Mucolipin 1

KW - N-acetylglu-cosaminyl-1-phosphotransferase

KW - Pseudo-Hurler polydystrophy

KW - Sialidoses

UR - http://www.scopus.com/inward/record.url?scp=84943270862&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84943270862&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-410529-4.00032-2

DO - 10.1016/B978-0-12-410529-4.00032-2

M3 - Chapter

AN - SCOPUS:84943270862

SN - 9780124105492

SP - 365

EP - 368

BT - Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

PB - Elsevier Inc.

ER -

The Mucolipidoses

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this