Phenotypic variability of HIBCH deficiency

Josef Finsterer, MD, PhD

doi:10.15520/jmbas.v6i10.165

Articles

Phenotypic variability of HIBCH deficiency

Josef Finsterer, MD, PhD

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria

pdf (inglés)

Published 2018-10-05 Issue Vol. 6 Núm. 10 (2018) Pages 183 Section Articles

10.15520/jmbas.v6i10.165

Resumen

see the pdf

How to Cite

Josef Finsterer, MD, PhD (2018). Phenotypic variability of HIBCH deficiency. Journal of Medical Biomedical and Applied Sciences , Vol. 6 Núm. 10 (2018) , 183 . https://doi.org/10.15520/jmbas.v6i10.165

Article information

DOI 10.15520/jmbas.v6i10.165

Published 2018-10-05

Issue Vol. 6 Núm. 10 (2018)

Pages 183

Section Articles

Cómo citar

Phenotypic variability of HIBCH deficiency. (2018). Journal of Medical Biomedical and Applied Sciences, 6(10), 183. https://doi.org/10.15520/jmbas.v6i10.165

Descargar cita

Artículos más leídos del mismo autor/a

Josef Finsterer, MD, PhD, Left ventricular hypertrabeculation /noncompaction in 3-HMG coenzyme A lyase deficiency , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 8 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk Mahjoub, PhD, Riboflavin Is Ineffective For Maternally Inherited Mitochondrial Disease , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 6 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Mitochondrial neuropathy in pediatric patients carrying mtDNA, POLG1, SURF1, and PDHA1 mutations , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 9 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Does 3D pASP truly reflect hyperperfusion in stroke-like lesions? , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 7 (2018)
Josef Finsterer, MD, PhD, OCT-angiography is inappropriate to demonstrate causality of peripapillary hypodensity in LHON , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 12 (2018)
Josef Finsterer, MD, PhD, Concepción Maeztu, MD, PhD, MELAS and its peculiarities , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 10 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Mitochondrial Multiorgan Disorder Syndrome (Mimods) Due To Mutations In The Slc25a46 Gene , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 6 (2018)
Josef Finsterer, MD, PhD, Influences on genotype/phenotype correlations in mtDNA-related Leigh syndrome are heterogeneous , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 11 (2018)
Josef Finsterer, MD, PhD, Genetic confirmation of dysferlinopathy is required before attributing obsessive compulsive disorder to Myoshi myopathy , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 11 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Phenotypic Spectrum And Age Distribution of SLC25A4 Mutations , Journal of Medical Biomedical and Applied Sciences: Vol. 6 Núm. 7 (2018)

> >>