A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Saskia Wortmann; Johannes A. Mayr; Jean Marc Nuoffer; Holger Prokisch; Wolfgang Sperl

doi:10.1055/s-0037-1603776

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Saskia Wortmann^* (First author), Johannes A. Mayr (Co-author), Jean Marc Nuoffer, Holger Prokisch, Wolfgang Sperl (Last author)

^*Corresponding author for this work

Department of Pediatrics

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

49 Citations (Web of Science)

Original language	English
Pages (from-to)	309-314
Journal	NEUROPEDIATRICS
Volume	48
Issue number	4
DOIs	https://doi.org/10.1055/s-0037-1603776
Publication status	Published - 2017

Keywords

COMPLEX I DEFICIENCY
3-METHYLGLUTACONIC ACIDURIA
LEIGH-SYNDROME
MUTATIONS
DISORDERS
SPECTRUM
EPIDEMIOLOGY
DEFECTS
GENES

Access to Document

10.1055/s-0037-1603776

Cite this

Wortmann, S., Mayr, J. A., Nuoffer, J. M., Prokisch, H., & Sperl, W. (2017). A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. NEUROPEDIATRICS , 48(4), 309-314. https://doi.org/10.1055/s-0037-1603776

Wortmann, Saskia ; Mayr, Johannes A. ; Nuoffer, Jean Marc et al. / A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. In: NEUROPEDIATRICS 2017 ; Vol. 48, No. 4. pp. 309-314.

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title = "A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.",

keywords = "COMPLEX I DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, LEIGH-SYNDROME, MUTATIONS, DISORDERS, SPECTRUM, EPIDEMIOLOGY, DEFECTS, GENES",

author = "Saskia Wortmann and Mayr, {Johannes A.} and Nuoffer, {Jean Marc} and Holger Prokisch and Wolfgang Sperl",

note = "Wortmann, Sperl, Mayr: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria",

year = "2017",

doi = "10.1055/s-0037-1603776",

language = "English",

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pages = "309--314",

journal = "NEUROPEDIATRICS ",

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}

Wortmann, S , Mayr, JA, Nuoffer, JM, Prokisch, H & Sperl, W 2017, 'A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.', NEUROPEDIATRICS , vol. 48, no. 4, pp. 309-314. https://doi.org/10.1055/s-0037-1603776

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. / Wortmann, Saskia (First author); Mayr, Johannes A. (Co-author); Nuoffer, Jean Marc et al.
In: NEUROPEDIATRICS , Vol. 48, No. 4, 2017, p. 309-314.

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

TY - JOUR

T1 - A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

AU - Wortmann, Saskia

AU - Mayr, Johannes A.

AU - Nuoffer, Jean Marc

AU - Prokisch, Holger

AU - Sperl, Wolfgang

N1 - Wortmann, Sperl, Mayr: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria

PY - 2017

Y1 - 2017

KW - COMPLEX I DEFICIENCY

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - LEIGH-SYNDROME

KW - MUTATIONS

KW - DISORDERS

KW - SPECTRUM

KW - EPIDEMIOLOGY

KW - DEFECTS

KW - GENES

U2 - 10.1055/s-0037-1603776

DO - 10.1055/s-0037-1603776

M3 - Original Article

C2 - 28599323

SN - 0174-304X

VL - 48

SP - 309

EP - 314

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

IS - 4

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Wortmann S , Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. NEUROPEDIATRICS . 2017;48(4):309-314. doi: 10.1055/s-0037-1603776