Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

L. IJlst; S. Uskikubo; T. Kamijo; T. Hashimoto; J. P. Ruiter; J. B. de Klerk; R. J. Wanders

doi:https://doi.org/10.1007/BF00711778

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

L. IJlst, S. Uskikubo, T. Kamijo, T. Hashimoto, J. P. Ruiter, J. B. de Klerk, R. J. Wanders

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

40 Citations (Scopus)

Original language	English
Pages (from-to)	241-244
Journal	Journal of Inherited Metabolic Disease
Volume	18
Issue number	2
DOIs	https://doi.org/10.1007/BF00711778
Publication status	Published - 1995

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https://doi.org/10.1007/BF00711778

Cite this

@article{94bbe1b02dc1497698692fecb161551c,

title = "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype",

author = "L. IJlst and S. Uskikubo and T. Kamijo and T. Hashimoto and Ruiter, {J. P.} and {de Klerk}, {J. B.} and Wanders, {R. J.}",

year = "1995",

doi = "https://doi.org/10.1007/BF00711778",

language = "English",

volume = "18",

pages = "241--244",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "2",

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TY - JOUR

T1 - Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

AU - IJlst, L.

AU - Uskikubo, S.

AU - Kamijo, T.

AU - Hashimoto, T.

AU - Ruiter, J. P.

AU - de Klerk, J. B.

AU - Wanders, R. J.

PY - 1995

Y1 - 1995

U2 - https://doi.org/10.1007/BF00711778

DO - https://doi.org/10.1007/BF00711778

M3 - Article

C2 - 7564258

SN - 0141-8955

VL - 18

SP - 241

EP - 244

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -