Multiple Enzyme Deficiencies

Annick Raas-Rothschild; Sandra Pohl; Thomas Braulke; Graciana Diez-Roux; Andrea Ballabio

doi:10.1002/9781118514672.ch16

Multiple Enzyme Deficiencies

Annick Raas-Rothschild^*, Sandra Pohl, Thomas Braulke, Graciana Diez-Roux, Andrea Ballabio

^*Corresponding author for this work

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

5 Scopus citations

Original language	English
Title of host publication	Lysosomal Storage Disorders
Subtitle of host publication	A Practical Guide
Publisher	John Wiley and Sons
Pages	121-130
Number of pages	10
ISBN (Print)	9780470670873
DOIs	https://doi.org/10.1002/9781118514672.ch16
State	Published - 15 Nov 2012
Externally published	Yes

Keywords

Chorionic villus sampling (CVS)
I-cell disease
Lysosomal storage disorders (LSDs)
Mucolipidosis
Preimplantation genetic diagnosis (PGD)

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10.1002/9781118514672.ch16

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title = "Multiple Enzyme Deficiencies",

keywords = "Chorionic villus sampling (CVS), I-cell disease, Lysosomal storage disorders (LSDs), Mucolipidosis, Preimplantation genetic diagnosis (PGD)",

author = "Annick Raas-Rothschild and Sandra Pohl and Thomas Braulke and Graciana Diez-Roux and Andrea Ballabio",

year = "2012",

month = nov,

day = "15",

doi = "10.1002/9781118514672.ch16",

language = "אנגלית",

isbn = "9780470670873",

pages = "121--130",

booktitle = "Lysosomal Storage Disorders",

publisher = "John Wiley and Sons",

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TY - CHAP

T1 - Multiple Enzyme Deficiencies

AU - Raas-Rothschild, Annick

AU - Pohl, Sandra

AU - Braulke, Thomas

AU - Diez-Roux, Graciana

AU - Ballabio, Andrea

PY - 2012/11/15

Y1 - 2012/11/15

KW - Chorionic villus sampling (CVS)

KW - I-cell disease

KW - Lysosomal storage disorders (LSDs)

KW - Mucolipidosis

KW - Preimplantation genetic diagnosis (PGD)

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DO - 10.1002/9781118514672.ch16

M3 - ???researchoutput.researchoutputtypes.contributiontobookanthology.chapter???

AN - SCOPUS:84886571136

SN - 9780470670873

SP - 121

EP - 130

BT - Lysosomal Storage Disorders

PB - John Wiley and Sons

ER -

Multiple Enzyme Deficiencies

Keywords

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