Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families

W Kleijer; VH Garritsen; M Linnebank; P Mooyer; Jan Huijmans; A Mustonen; KOJ Simola; M Arslan-Kirchner; R Battini; P Briones; E Cardo; H Mandel; E Tschiedel; RJA Wanders; HG Koch

doi:10.1023/A:1020108002877

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families

W Kleijer, VH Garritsen, M Linnebank, P Mooyer, Jan Huijmans, A Mustonen, KOJ Simola, M Arslan-Kirchner, R Battini, P Briones, E Cardo, H Mandel, E Tschiedel, RJA Wanders, HG Koch

Clinical Genetics

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

40 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	399-410
Number of pages	12
Journal	Journal of Inherited Metabolic Disease
Volume	25
DOIs	https://doi.org/10.1023/A:1020108002877
Publication status	Published - 2002

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10.1023/A:1020108002877

http://hdl.handle.net/1765/57602

Cite this

Kleijer, W., Garritsen, VH., Linnebank, M., Mooyer, P., Huijmans, J., Mustonen, A., Simola, KOJ., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, RJA., & Koch, HG. (2002). Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families. Journal of Inherited Metabolic Disease, 25, 399-410. https://doi.org/10.1023/A:1020108002877

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title = "Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families",

author = "W Kleijer and VH Garritsen and M Linnebank and P Mooyer and Jan Huijmans and A Mustonen and KOJ Simola and M Arslan-Kirchner and R Battini and P Briones and E Cardo and H Mandel and E Tschiedel and RJA Wanders and HG Koch",

year = "2002",

doi = "10.1023/A:1020108002877",

language = "Undefined/Unknown",

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pages = "399--410",

journal = "Journal of Inherited Metabolic Disease",

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Kleijer, W, Garritsen, VH, Linnebank, M, Mooyer, P, Huijmans, J, Mustonen, A, Simola, KOJ, Arslan-Kirchner, M, Battini, R, Briones, P, Cardo, E, Mandel, H, Tschiedel, E, Wanders, RJA & Koch, HG 2002, 'Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families', Journal of Inherited Metabolic Disease, vol. 25, pp. 399-410. https://doi.org/10.1023/A:1020108002877

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families. / Kleijer, W; Garritsen, VH; Linnebank, M et al.

In: Journal of Inherited Metabolic Disease, Vol. 25, 2002, p. 399-410.

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

TY - JOUR

T1 - Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccenic aciduria: prenatal and postnatal diagnosis in five unrelated families

AU - Kleijer, W

AU - Garritsen, VH

AU - Linnebank, M

AU - Mooyer, P

AU - Huijmans, Jan

AU - Mustonen, A

AU - Simola, KOJ

AU - Arslan-Kirchner, M

AU - Battini, R

AU - Briones, P

AU - Cardo, E

AU - Mandel, H

AU - Tschiedel, E

AU - Wanders, RJA

AU - Koch, HG

PY - 2002

Y1 - 2002

U2 - 10.1023/A:1020108002877

DO - 10.1023/A:1020108002877

M3 - Article

SN - 0141-8955

VL - 25

SP - 399

EP - 410

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

ER -