Asymptomatic and Late-Onset Ornithine Transcarbamylase Deficiency Caused by a A208T Mutation: Clinical, Biochemical and DNA Analyses in a Four-Generation Family

MGEM Ausems; E@ Bakker; R Berger; M (Marinus) Duran; Otto Diggelen; JLM Keulemans; HW de Valk; ALJ Kneppers; L Dorland; PF Eskes; FA Beemer; BT Poll-The; JAM Smeitink

Asymptomatic and Late-Onset Ornithine Transcarbamylase Deficiency Caused by a A208T Mutation: Clinical, Biochemical and DNA Analyses in a Four-Generation Family

MGEM Ausems
, E@ Bakker
, R Berger
, M (Marinus) Duran
, Otto Diggelen
, JLM Keulemans
, HW de Valk
, ALJ Kneppers
, L Dorland
, PF Eskes
, FA Beemer
, BT Poll-The
, JAM Smeitink

Clinical Genetics

External organisation

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

30 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	236-239
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	68
Publication status	Published - 1997

Research programs

EMC MGC-02-96-01

Cite this

Ausems, MGEM., Bakker, E., Berger, R., Duran, M., Diggelen, O., Keulemans, JLM., de Valk, HW., Kneppers, ALJ., Dorland, L., Eskes, PF., Beemer, FA., Poll-The, BT., & Smeitink, JAM. (1997). Asymptomatic and Late-Onset Ornithine Transcarbamylase Deficiency Caused by a A208T Mutation: Clinical, Biochemical and DNA Analyses in a Four-Generation Family. American Journal of Medical Genetics, 68, 236-239.

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author = "MGEM Ausems and E@ Bakker and R Berger and Duran, \{M (Marinus)\} and Otto Diggelen and JLM Keulemans and \{de Valk\}, HW and ALJ Kneppers and L Dorland and PF Eskes and FA Beemer and BT Poll-The and JAM Smeitink",

year = "1997",

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volume = "68",

pages = "236--239",

journal = "American Journal of Medical Genetics",

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Ausems, MGEM, Bakker, E, Berger, R, Duran, M, Diggelen, O, Keulemans, JLM, de Valk, HW, Kneppers, ALJ, Dorland, L, Eskes, PF, Beemer, FA, Poll-The, BT & Smeitink, JAM 1997, 'Asymptomatic and Late-Onset Ornithine Transcarbamylase Deficiency Caused by a A208T Mutation: Clinical, Biochemical and DNA Analyses in a Four-Generation Family', American Journal of Medical Genetics, vol. 68, pp. 236-239.

TY - JOUR

T1 - Asymptomatic and Late-Onset Ornithine Transcarbamylase Deficiency Caused by a A208T Mutation: Clinical, Biochemical and DNA Analyses in a Four-Generation Family

AU - Ausems, MGEM

AU - Bakker, E@

AU - Berger, R

AU - Duran, M (Marinus)

AU - Diggelen, Otto

AU - Keulemans, JLM

AU - de Valk, HW

AU - Kneppers, ALJ

AU - Dorland, L

AU - Eskes, PF

AU - Beemer, FA

AU - Poll-The, BT

AU - Smeitink, JAM

PY - 1997

Y1 - 1997

M3 - Article

SN - 0148-7299

VL - 68

SP - 236

EP - 239

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

ER -