Related Experiment Videos

Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies

W Sperl¹, W Ruitenbeek, J M Trijbels

¹Department of Pediatrics, University Hospital of Nijmegen, The Netherlands.

Journal of Inherited Metabolic Disease

|January 1, 1990

Abstract

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Neuropediatrics·2025

Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.

Genes·2022

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2015

Rational diagnostic strategies for Lyme borreliosis in children and adolescents: recommendations by the Committee for Infectious Diseases and Vaccinations of the German Academy for Pediatrics and Adolescent Health.

European journal of pediatrics·2012

Increased resting metabolic rate in girls with Rett syndrome compared to girls with developmental disabilities.

Neuropediatrics·2011

Clinical outcome of children presenting with a severe manifestation of acute disseminated encephalomyelitis.

Neuropediatrics·2010

See all related articles