Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy

John J. Hopwood

doi:10.1002/9781444314342.ch14

Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy

John J. Hopwood

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Original language	English
Title of host publication	Genetic Disorders and the Fetus
Subtitle of host publication	Diagnosis, Prevention and Treatment: Sixth Edition
Publisher	Wiley Blackwell
Pages	495-513
Number of pages	19
ISBN (Print)	9781405190879
DOIs	https://doi.org/10.1002/9781444314342.ch14
Publication status	Published or Issued - 18 May 2010
Externally published	Yes

Keywords

Disease heterogeneity and allele differences
Electrospray ionization - tandem mass spectrometry, storage of DS and HS oligosaccharide exoenzyme substrates
Enzyme replacement therapy for lysosomal storage disorders
Fetus at risk diagnosis for MPS IVA - GAL6S activity analysis in CV tissue
Glycosaminoglycans - synthesis, structure and function
Mucopolysaccharidose biochemical and molecular genetic characteristics
Mucopolysaccharidose prenatal detection
Mucopolysaccharidoses (MPS) - 11 genetically transmitted lysosomal storage diseases
Mucopolysaccharidoses - pathogenesis and pathophysiology
Prenatal diagnosis of mucopolysaccharidoses and postnatal enzyme replacement therapy

ASJC Scopus subject areas

General Medicine

Access to Document

10.1002/9781444314342.ch14

Cite this

@inbook{e0471e56b6e045789272f05d53953fa8,

title = "Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy",

keywords = "Disease heterogeneity and allele differences, Electrospray ionization - tandem mass spectrometry, storage of DS and HS oligosaccharide exoenzyme substrates, Enzyme replacement therapy for lysosomal storage disorders, Fetus at risk diagnosis for MPS IVA - GAL6S activity analysis in CV tissue, Glycosaminoglycans - synthesis, structure and function, Mucopolysaccharidose biochemical and molecular genetic characteristics, Mucopolysaccharidose prenatal detection, Mucopolysaccharidoses (MPS) - 11 genetically transmitted lysosomal storage diseases, Mucopolysaccharidoses - pathogenesis and pathophysiology, Prenatal diagnosis of mucopolysaccharidoses and postnatal enzyme replacement therapy",

author = "Hopwood, \{John J.\}",

year = "2010",

month = may,

day = "18",

doi = "10.1002/9781444314342.ch14",

language = "English",

isbn = "9781405190879",

pages = "495--513",

booktitle = "Genetic Disorders and the Fetus",

publisher = "Wiley Blackwell",

}

TY - CHAP

T1 - Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy

AU - Hopwood, John J.

PY - 2010/5/18

Y1 - 2010/5/18

KW - Disease heterogeneity and allele differences

KW - Electrospray ionization - tandem mass spectrometry, storage of DS and HS oligosaccharide exoenzyme substrates

KW - Enzyme replacement therapy for lysosomal storage disorders

KW - Fetus at risk diagnosis for MPS IVA - GAL6S activity analysis in CV tissue

KW - Glycosaminoglycans - synthesis, structure and function

KW - Mucopolysaccharidose biochemical and molecular genetic characteristics

KW - Mucopolysaccharidose prenatal detection

KW - Mucopolysaccharidoses (MPS) - 11 genetically transmitted lysosomal storage diseases

KW - Mucopolysaccharidoses - pathogenesis and pathophysiology

KW - Prenatal diagnosis of mucopolysaccharidoses and postnatal enzyme replacement therapy

UR - https://www.scopus.com/pages/publications/84886560457

U2 - 10.1002/9781444314342.ch14

DO - 10.1002/9781444314342.ch14

M3 - Chapter

AN - SCOPUS:84886560457

SN - 9781405190879

SP - 495

EP - 513

BT - Genetic Disorders and the Fetus

PB - Wiley Blackwell

ER -

Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy

Keywords

ASJC Scopus subject areas

Access to Document

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