Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

S Beerepoot; SJM van Dooren; GS Salomons; JJ Boelens; Ed Jacobs; MS van der Knaap; ABP van Kuilenburg; NI Wolf

doi:10.1007/s10048-020-00621-6

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

S Beerepoot, SJM van Dooren, GS Salomons, JJ Boelens, Ed Jacobs, MS van der Knaap, ABP van Kuilenburg, NI Wolf

Clinical Genetics

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

18 Citations (Scopus)

62 Downloads (Pure)

Original language	English
Pages (from-to)	289-299
Number of pages	11
Journal	Neurogenetics
Volume	21
Issue number	4
DOIs	https://doi.org/10.1007/s10048-020-00621-6
Publication status	Published - 2020

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EMC OR-01

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10.1007/s10048-020-00621-6

Repub_128853_O-A.pdfFinal published version, 4.02 MB

http://hdl.handle.net/1765/128853

Cite this

@article{30d946eb1a274a89a7df154841138f65,

title = "Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients",

author = "S Beerepoot and \{van Dooren\}, SJM and GS Salomons and JJ Boelens and Ed Jacobs and \{van der Knaap\}, MS and \{van Kuilenburg\}, ABP and NI Wolf",

year = "2020",

doi = "10.1007/s10048-020-00621-6",

language = "English",

volume = "21",

pages = "289--299",

journal = "Neurogenetics",

issn = "1364-6745",

publisher = "Springer Science+Business Media",

number = "4",

}

TY - JOUR

T1 - Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

AU - Beerepoot, S

AU - van Dooren, SJM

AU - Salomons, GS

AU - Boelens, JJ

AU - Jacobs, Ed

AU - van der Knaap, MS

AU - van Kuilenburg, ABP

AU - Wolf, NI

PY - 2020

Y1 - 2020

U2 - 10.1007/s10048-020-00621-6

DO - 10.1007/s10048-020-00621-6

M3 - Article

C2 - 32632536

SN - 1364-6745

VL - 21

SP - 289

EP - 299

JO - Neurogenetics

JF - Neurogenetics

IS - 4

ER -