Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Audrey Vollebregt; Marianne Hoogeveen - Westerveld; Marian Haan; Esmeralda Oussoren; Iris Plug; GJ Ruijter; Ans van der Ploeg; Pim Pijnappel

doi:10.1111/dmcn.13467

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Audrey Vollebregt, Marianne Hoogeveen - Westerveld, Marian Haan, Esmeralda Oussoren, Iris Plug, GJ Ruijter, Ans van der Ploeg, Pim Pijnappel

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

33 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1063-1070
Number of pages	8
Journal	Developmental Medicine & Child Neurology
Volume	59
Issue number	10
DOIs	https://doi.org/10.1111/dmcn.13467
Publication status	Published - 2017

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EMC MM-01-54-01

Access to Document

10.1111/dmcn.13467

http://hdl.handle.net/1765/102140

Cite this

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title = "Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype",

author = "Audrey Vollebregt and {Hoogeveen - Westerveld}, Marianne and Marian Haan and Esmeralda Oussoren and Iris Plug and GJ Ruijter and {van der Ploeg}, Ans and Pim Pijnappel",

year = "2017",

doi = "10.1111/dmcn.13467",

language = "Undefined/Unknown",

volume = "59",

pages = "1063--1070",

journal = "Developmental Medicine & Child Neurology",

issn = "0012-1622",

publisher = "Wiley-Blackwell",

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}

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T1 - Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

AU - Vollebregt, Audrey

AU - Hoogeveen - Westerveld, Marianne

AU - Haan, Marian

AU - Oussoren, Esmeralda

AU - Plug, Iris

AU - Ruijter, GJ

AU - van der Ploeg, Ans

AU - Pijnappel, Pim

PY - 2017

Y1 - 2017

U2 - 10.1111/dmcn.13467

DO - 10.1111/dmcn.13467

M3 - Article

C2 - 28543354

SN - 0012-1622

VL - 59

SP - 1063

EP - 1070

JO - Developmental Medicine & Child Neurology

JF - Developmental Medicine & Child Neurology

IS - 10

ER -