Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses

Boris Hogema; S Akaboshi; M Taylor; GS Salomons; C Jakobs; RBH Schutgens; B Wilcken; S Worthington; G Maropoulos; M Grompe; KM Gibson

doi:10.1006/mgme.2000.3145

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses

Boris Hogema, S Akaboshi, M Taylor, GS Salomons, C Jakobs, RBH Schutgens, B Wilcken, S Worthington, G Maropoulos, M Grompe, KM Gibson

Biochemistry

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

24 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	218-222
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	72
DOIs	https://doi.org/10.1006/mgme.2000.3145
Publication status	Published - 2001

Access to Document

10.1006/mgme.2000.3145

http://hdl.handle.net/1765/67511

Cite this

Hogema, B., Akaboshi, S., Taylor, M., Salomons, GS., Jakobs, C., Schutgens, RBH., Wilcken, B., Worthington, S., Maropoulos, G., Grompe, M., & Gibson, KM. (2001). Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Molecular Genetics and Metabolism, 72, 218-222. https://doi.org/10.1006/mgme.2000.3145

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title = "Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses",

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year = "2001",

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Hogema, B, Akaboshi, S, Taylor, M, Salomons, GS, Jakobs, C, Schutgens, RBH, Wilcken, B, Worthington, S, Maropoulos, G, Grompe, M & Gibson, KM 2001, 'Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses', Molecular Genetics and Metabolism, vol. 72, pp. 218-222. https://doi.org/10.1006/mgme.2000.3145

TY - JOUR

T1 - Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses

AU - Hogema, Boris

AU - Akaboshi, S

AU - Taylor, M

AU - Salomons, GS

AU - Jakobs, C

AU - Schutgens, RBH

AU - Wilcken, B

AU - Worthington, S

AU - Maropoulos, G

AU - Grompe, M

AU - Gibson, KM

PY - 2001

Y1 - 2001

U2 - 10.1006/mgme.2000.3145

DO - 10.1006/mgme.2000.3145

M3 - Article

SN - 1096-7192

VL - 72

SP - 218

EP - 222

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

ER -