Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

DR Sjarif; C Hellerud; JK Ploos van Amstel; W Kleijer; W Sperl; D Lacombe; JO Sass; FA Beemer; M (Marinus) Duran; BT Poll-The

doi:10.1038/sj.ejhg.5201172

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

DR Sjarif, C Hellerud, JK Ploos van Amstel, W Kleijer, W Sperl, D Lacombe, JO Sass, FA Beemer, M (Marinus) Duran, BT Poll-The

Clinical Genetics

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

11 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	424-432
Number of pages	9
Journal	European Journal of Human Genetics
Volume	12
Issue number	6
DOIs	https://doi.org/10.1038/sj.ejhg.5201172
Publication status	Published - 2004

Access to Document

10.1038/sj.ejhg.5201172

http://hdl.handle.net/1765/61845

Cite this

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title = "Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation",

author = "DR Sjarif and C Hellerud and {Ploos van Amstel}, JK and W Kleijer and W Sperl and D Lacombe and JO Sass and FA Beemer and Duran, {M (Marinus)} and BT Poll-The",

year = "2004",

doi = "10.1038/sj.ejhg.5201172",

language = "Undefined/Unknown",

volume = "12",

pages = "424--432",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "6",

}

TY - JOUR

T1 - Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

AU - Sjarif, DR

AU - Hellerud, C

AU - Ploos van Amstel, JK

AU - Kleijer, W

AU - Sperl, W

AU - Lacombe, D

AU - Sass, JO

AU - Beemer, FA

AU - Duran, M (Marinus)

AU - Poll-The, BT

PY - 2004

Y1 - 2004

U2 - 10.1038/sj.ejhg.5201172

DO - 10.1038/sj.ejhg.5201172

M3 - Article

SN - 1018-4813

VL - 12

SP - 424

EP - 432

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -