The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Wolfgang Sperl; Leanne Fleuren; Peter Freisinger; Tobias B Haack; Antonia Ribes; René Feichtinger; Richard J Rodenburg; Franz Zimmermann; Johannes Koch; Isabel Rivera; Holger Prokisch; Jan A Smeitink; Johannes A. Mayr

doi:10.1007/s10545-014-9787-3

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Wolfgang Sperl^* (First author), Leanne Fleuren, Peter Freisinger, Tobias B Haack, Antonia Ribes, René Feichtinger (Co-author), Richard J Rodenburg, Franz Zimmermann (Co-author), Johannes Koch (Co-author), Isabel Rivera, Holger Prokisch, Jan A Smeitink, Johannes A. Mayr (Last author)

^*Corresponding author for this work

Department of Pediatrics

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

43 Citations (Web of Science)

Original language	English
Pages (from-to)	391-403
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	38
Issue number	3
DOIs	https://doi.org/10.1007/s10545-014-9787-3
Publication status	Published - 2015

Keywords

DEHYDROGENASE COMPLEX DEFICIENCY
CONGENITAL LACTIC-ACIDOSIS
BASAL GANGLIA DISEASE
LIPOYL-CONTAINING COMPONENT
EXOME SEQUENCING REVEALS
SUBUNIT GENE PDHA1
RESPIRATORY-CHAIN
LEIGH-SYNDROME
PROTEIN BIOGENESIS
SLC19A3 MUTATIONS

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10.1007/s10545-014-9787-3

Cite this

Sperl, W., Fleuren, L., Freisinger, P., Haack, T. B., Ribes, A., Feichtinger, R., Rodenburg, R. J., Zimmermann, F., Koch, J., Rivera, I., Prokisch, H., Smeitink, J. A., & Mayr, J. A. (2015). The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. JOURNAL OF INHERITED METABOLIC DISEASE , 38(3), 391-403. https://doi.org/10.1007/s10545-014-9787-3

Sperl, Wolfgang ; Fleuren, Leanne ; Freisinger, Peter et al. / The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. In: JOURNAL OF INHERITED METABOLIC DISEASE 2015 ; Vol. 38, No. 3. pp. 391-403.

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title = "The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.",

keywords = "DEHYDROGENASE COMPLEX DEFICIENCY, CONGENITAL LACTIC-ACIDOSIS, BASAL GANGLIA DISEASE, LIPOYL-CONTAINING COMPONENT, EXOME SEQUENCING REVEALS, SUBUNIT GENE PDHA1, RESPIRATORY-CHAIN, LEIGH-SYNDROME, PROTEIN BIOGENESIS, SLC19A3 MUTATIONS",

author = "Wolfgang Sperl and Leanne Fleuren and Peter Freisinger and Haack, {Tobias B} and Antonia Ribes and Ren{\'e} Feichtinger and Rodenburg, {Richard J} and Franz Zimmermann and Johannes Koch and Isabel Rivera and Holger Prokisch and Smeitink, {Jan A} and Mayr, {Johannes A.}",

note = "Department of Paediatrics, Paracelsus Medical University",

year = "2015",

doi = "10.1007/s10545-014-9787-3",

language = "English",

volume = "38",

pages = "391--403",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

issn = "0141-8955",

publisher = "Wiley Verlag ",

number = "3",

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Sperl, W, Fleuren, L, Freisinger, P, Haack, TB, Ribes, A, Feichtinger, R, Rodenburg, RJ, Zimmermann, F , Koch, J, Rivera, I, Prokisch, H, Smeitink, JA & Mayr, JA 2015, 'The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 38, no. 3, pp. 391-403. https://doi.org/10.1007/s10545-014-9787-3

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. / Sperl, Wolfgang (First author); Fleuren, Leanne; Freisinger, Peter et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 38, No. 3, 2015, p. 391-403.

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

TY - JOUR

T1 - The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

AU - Sperl, Wolfgang

AU - Fleuren, Leanne

AU - Freisinger, Peter

AU - Haack, Tobias B

AU - Ribes, Antonia

AU - Feichtinger, René

AU - Rodenburg, Richard J

AU - Zimmermann, Franz

AU - Koch, Johannes

AU - Rivera, Isabel

AU - Prokisch, Holger

AU - Smeitink, Jan A

AU - Mayr, Johannes A.

N1 - Department of Paediatrics, Paracelsus Medical University

PY - 2015

Y1 - 2015

KW - DEHYDROGENASE COMPLEX DEFICIENCY

KW - CONGENITAL LACTIC-ACIDOSIS

KW - BASAL GANGLIA DISEASE

KW - LIPOYL-CONTAINING COMPONENT

KW - EXOME SEQUENCING REVEALS

KW - SUBUNIT GENE PDHA1

KW - RESPIRATORY-CHAIN

KW - LEIGH-SYNDROME

KW - PROTEIN BIOGENESIS

KW - SLC19A3 MUTATIONS

U2 - 10.1007/s10545-014-9787-3

DO - 10.1007/s10545-014-9787-3

M3 - Original Article

C2 - 25526709

SN - 0141-8955

VL - 38

SP - 391

EP - 403

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 3

ER -

Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger R et al. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. JOURNAL OF INHERITED METABOLIC DISEASE . 2015;38(3):391-403. doi: 10.1007/s10545-014-9787-3