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

WJ Kleijer; P Briones; E Cardo; H Mandel; E Tschiedel; RJ Wanders; HG Koch; VH Garritsen; M Linnebank; P Mooyer; JG Huijmans; A Mustonen; KO Simola; M Arslan-Kirchner; R Battini

doi:10.1023/a:1020108002877

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

WJ Kleijer
, P Briones
, E Cardo
, H Mandel
, E Tschiedel
, RJ Wanders
, HG Koch
, VH Garritsen
, M Linnebank
, P Mooyer
, JG Huijmans
, A Mustonen
, KO Simola
, M Arslan-Kirchner
, R Battini

Kliinisen kemian yksikkö

Tutkimustuotos: Artikkeli › Tieteellinen › vertaisarvioitu

43 Sitaatiot (Scopus)

Alkuperäiskieli	Englanti
Sivut	399-410
Julkaisu	Journal of Inherited Metabolic Disease
Vuosikerta	25
Numero	5
DOI - pysyväislinkit	https://doi.org/10.1023/a:1020108002877
Tila	Julkaistu - 2002
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä

Pääsy asiakirjaan

10.1023/a:1020108002877

Siteeraa tätä

Kleijer, WJ., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, RJ., Koch, HG., Garritsen, VH., Linnebank, M., Mooyer, P., Huijmans, JG., Mustonen, A., Simola, KO., Arslan-Kirchner, M., & Battini, R. (2002). Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. Journal of Inherited Metabolic Disease, 25(5), 399-410. https://doi.org/10.1023/a:1020108002877

@article{4d135474c82046e792ad41ae5ca29e79,

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

author = "WJ Kleijer and P Briones and E Cardo and H Mandel and E Tschiedel and RJ Wanders and HG Koch and VH Garritsen and M Linnebank and P Mooyer and JG Huijmans and A Mustonen and KO Simola and M Arslan-Kirchner and R Battini",

year = "2002",

doi = "10.1023/a:1020108002877",

language = "English",

volume = "25",

pages = "399--410",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "5",

}

Kleijer, WJ, Briones, P, Cardo, E, Mandel, H, Tschiedel, E, Wanders, RJ, Koch, HG, Garritsen, VH, Linnebank, M, Mooyer, P, Huijmans, JG, Mustonen, A, Simola, KO, Arslan-Kirchner, M & Battini, R 2002, 'Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families', Journal of Inherited Metabolic Disease, Vuosikerta 25, Nro 5, Sivut 399-410. https://doi.org/10.1023/a:1020108002877

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. / Kleijer, WJ; Briones, P; Cardo, E et al.
julkaisussa: Journal of Inherited Metabolic Disease, Vuosikerta 25, Nro 5, 2002, s. 399-410.

Tutkimustuotos: Artikkeli › Tieteellinen › vertaisarvioitu

TY - JOUR

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

AU - Kleijer, WJ

AU - Briones, P

AU - Cardo, E

AU - Mandel, H

AU - Tschiedel, E

AU - Wanders, RJ

AU - Koch, HG

AU - Garritsen, VH

AU - Linnebank, M

AU - Mooyer, P

AU - Huijmans, JG

AU - Mustonen, A

AU - Simola, KO

AU - Arslan-Kirchner, M

AU - Battini, R

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

IS - 5

ER -