Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

S M S Budde; L P W J van den Heuvel; R J P Smeets; D Skladal; Johannes A. Mayr; C Boelen; V Petruzzella; S Papa; J A M Smeitink

doi:10.1023/B:BOLI.0000010003.14113.af

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

S M S Budde, L P W J van den Heuvel, R J P Smeets, D Skladal, Johannes A. Mayr (Co-author), C Boelen, V Petruzzella, S Papa, J A M Smeitink

Department of Pediatrics

Research output: Contribution to journal › Original Article (Journal) › peer-review

54 Citations (Web of Science)

Original language	English
Pages (from-to)	813-815
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	26
Issue number	8
DOIs	https://doi.org/10.1023/B:BOLI.0000010003.14113.af
Publication status	Published - 2003

Keywords

AQDQ SUBUNIT
DEFICIENCY

Access to Document

10.1023/B:BOLI.0000010003.14113.af

Cite this

Budde, S. M. S., van den Heuvel, L. P. W. J., Smeets, R. J. P., Skladal, D., Mayr, J. A., Boelen, C., Petruzzella, V., Papa, S., & Smeitink, J. A. M. (2003). Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. JOURNAL OF INHERITED METABOLIC DISEASE , 26(8), 813-815. https://doi.org/10.1023/B:BOLI.0000010003.14113.af

Budde, S M S ; van den Heuvel, L P W J ; Smeets, R J P et al. / Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. In: JOURNAL OF INHERITED METABOLIC DISEASE 2003 ; Vol. 26, No. 8. pp. 813-815.

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title = "Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.",

keywords = "AQDQ SUBUNIT, DEFICIENCY",

author = "Budde, {S M S} and {van den Heuvel}, {L P W J} and Smeets, {R J P} and D Skladal and Mayr, {Johannes A.} and C Boelen and V Petruzzella and S Papa and Smeitink, {J A M}",

year = "2003",

doi = "10.1023/B:BOLI.0000010003.14113.af",

language = "English",

volume = "26",

pages = "813--815",

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Budde, SMS, van den Heuvel, LPWJ, Smeets, RJP, Skladal, D, Mayr, JA, Boelen, C, Petruzzella, V, Papa, S & Smeitink, JAM 2003, 'Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 26, no. 8, pp. 813-815. https://doi.org/10.1023/B:BOLI.0000010003.14113.af

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. / Budde, S M S; van den Heuvel, L P W J; Smeets, R J P et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 26, No. 8, 2003, p. 813-815.

Research output: Contribution to journal › Original Article (Journal) › peer-review

TY - JOUR

T1 - Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

AU - Budde, S M S

AU - van den Heuvel, L P W J

AU - Smeets, R J P

AU - Skladal, D

AU - Mayr, Johannes A.

AU - Boelen, C

AU - Petruzzella, V

AU - Papa, S

AU - Smeitink, J A M

PY - 2003

Y1 - 2003

KW - AQDQ SUBUNIT

KW - DEFICIENCY

U2 - 10.1023/B:BOLI.0000010003.14113.af

DO - 10.1023/B:BOLI.0000010003.14113.af

M3 - Original Article (Journal)

C2 - 14765537

SN - 0141-8955

VL - 26

SP - 813

EP - 815

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 8

ER -

Budde SMS, van den Heuvel LPWJ, Smeets RJP, Skladal D, Mayr JA, Boelen C et al. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. JOURNAL OF INHERITED METABOLIC DISEASE . 2003;26(8):813-815. doi: 10.1023/B:BOLI.0000010003.14113.af