Mucopolysaccharides in osteochondrodysplasias

G. L. Francis; E. Feng; O. M. Rennert

doi:10.1111/j.1399-0004.1979.tb01344.x

Mucopolysaccharides in osteochondrodysplasias

G. L. Francis
, E. Feng
, O. M. Rennert

Research output: Contribution to journal › Article › peer-review

Abstract

Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.

Original language	English (US)
Pages (from-to)	376-382
Number of pages	7
Journal	Clinical Genetics
Volume	16
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1979.tb01344.x
State	Published - 1979
Externally published	Yes

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1111/j.1399-0004.1979.tb01344.x

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abstract = "Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.",

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T1 - Mucopolysaccharides in osteochondrodysplasias

AU - Francis, G. L.

AU - Feng, E.

AU - Rennert, O. M.

PY - 1979

Y1 - 1979

N2 - Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.

AB - Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.

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DO - 10.1111/j.1399-0004.1979.tb01344.x

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AN - SCOPUS:0018591131

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VL - 16

SP - 376

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JO - Clinical Genetics

JF - Clinical Genetics

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ER -

Mucopolysaccharides in osteochondrodysplasias

Abstract

ASJC Scopus subject areas

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