Spectrum of combined respiratory chain defects.

Johannes A. Mayr; Tobias B Haack; Peter Freisinger; Daniela Karall; Christine Makowski; Johannes Koch; René Feichtinger; Franz Zimmermann; Boris Rolinski; Uwe Ahting; Thomas Meitinger; Holger Prokisch; Wolfgang Sperl

doi:10.1007/s10545-015-9831-y

Spectrum of combined respiratory chain defects.

Johannes A. Mayr^* (First author), Tobias B Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch (Co-author), René Feichtinger (Co-author), Franz Zimmermann (Co-author), Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl (Last author)

^*Corresponding author for this work

Department of Pediatrics

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

77 Citations (Web of Science)

Original language	English
Pages (from-to)	629-640
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	38
Issue number	4
DOIs	https://doi.org/10.1007/s10545-015-9831-y
Publication status	Published - 2015

Keywords

MITOCHONDRIAL TRANSLATION DEFECT
SIDEROBLASTIC ANEMIA-MLASA
ELONGATION-FACTOR EFTS
COMPLEX-I DEFICIENCY
C-OXIDASE DEFICIENCY
IRON-SULFUR PROTEIN
HYPERTROPHIC CARDIOMYOPATHY
LACTIC-ACIDOSIS
EXTERNAL OPHTHALMOPLEGIA
MAMMALIAN MITOCHONDRIA

Access to Document

10.1007/s10545-015-9831-y

Cite this

Mayr, J. A., Haack, T. B., Freisinger, P., Karall, D., Makowski, C., Koch, J., Feichtinger, R., Zimmermann, F., Rolinski, B., Ahting, U., Meitinger, T., Prokisch, H., & Sperl, W. (2015). Spectrum of combined respiratory chain defects. JOURNAL OF INHERITED METABOLIC DISEASE , 38(4), 629-640. https://doi.org/10.1007/s10545-015-9831-y

Mayr, Johannes A. ; Haack, Tobias B ; Freisinger, Peter et al. / Spectrum of combined respiratory chain defects. In: JOURNAL OF INHERITED METABOLIC DISEASE 2015 ; Vol. 38, No. 4. pp. 629-640.

@article{1382e72e1a9e4254ac0193dde1dc941f,

title = "Spectrum of combined respiratory chain defects.",

keywords = "MITOCHONDRIAL TRANSLATION DEFECT, SIDEROBLASTIC ANEMIA-MLASA, ELONGATION-FACTOR EFTS, COMPLEX-I DEFICIENCY, C-OXIDASE DEFICIENCY, IRON-SULFUR PROTEIN, HYPERTROPHIC CARDIOMYOPATHY, LACTIC-ACIDOSIS, EXTERNAL OPHTHALMOPLEGIA, MAMMALIAN MITOCHONDRIA",

author = "Mayr, {Johannes A.} and Haack, {Tobias B} and Peter Freisinger and Daniela Karall and Christine Makowski and Johannes Koch and Ren{\'e} Feichtinger and Franz Zimmermann and Boris Rolinski and Uwe Ahting and Thomas Meitinger and Holger Prokisch and Wolfgang Sperl",

note = "Mayr, Koch, Feichtinger, Zimmermann, Sperl: Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria",

year = "2015",

doi = "10.1007/s10545-015-9831-y",

language = "English",

volume = "38",

pages = "629--640",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

issn = "0141-8955",

publisher = "Wiley Verlag ",

number = "4",

}

Mayr, JA, Haack, TB, Freisinger, P, Karall, D, Makowski, C, Koch, J , Feichtinger, R , Zimmermann, F, Rolinski, B, Ahting, U, Meitinger, T, Prokisch, H & Sperl, W 2015, 'Spectrum of combined respiratory chain defects.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 38, no. 4, pp. 629-640. https://doi.org/10.1007/s10545-015-9831-y

Spectrum of combined respiratory chain defects. / Mayr, Johannes A. (First author); Haack, Tobias B; Freisinger, Peter et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 38, No. 4, 2015, p. 629-640.

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

TY - JOUR

T1 - Spectrum of combined respiratory chain defects.

AU - Mayr, Johannes A.

AU - Haack, Tobias B

AU - Freisinger, Peter

AU - Karall, Daniela

AU - Makowski, Christine

AU - Koch, Johannes

AU - Feichtinger, René

AU - Zimmermann, Franz

AU - Rolinski, Boris

AU - Ahting, Uwe

AU - Meitinger, Thomas

AU - Prokisch, Holger

AU - Sperl, Wolfgang

N1 - Mayr, Koch, Feichtinger, Zimmermann, Sperl: Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria

PY - 2015

Y1 - 2015

KW - MITOCHONDRIAL TRANSLATION DEFECT

KW - SIDEROBLASTIC ANEMIA-MLASA

KW - ELONGATION-FACTOR EFTS

KW - COMPLEX-I DEFICIENCY

KW - C-OXIDASE DEFICIENCY

KW - IRON-SULFUR PROTEIN

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - LACTIC-ACIDOSIS

KW - EXTERNAL OPHTHALMOPLEGIA

KW - MAMMALIAN MITOCHONDRIA

U2 - 10.1007/s10545-015-9831-y

DO - 10.1007/s10545-015-9831-y

M3 - Original Article

C2 - 25778941

SN - 0141-8955

VL - 38

SP - 629

EP - 640

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 4

ER -

Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J et al. Spectrum of combined respiratory chain defects. JOURNAL OF INHERITED METABOLIC DISEASE . 2015;38(4):629-640. doi: 10.1007/s10545-015-9831-y