Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer
Journal Articles
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Overview
status
publication date
- April 2017
has subject area
- 1103 Clinical Sciences (FoR)
- Alleles (MeSH)
- Child, Preschool (MeSH)
- Echocardiography (MeSH)
- Energy Metabolism (MeSH)
- Exome Sequencing (MeSH)
- Female (MeSH)
- Fumarate Hydratase (MeSH)
- Genetics & Heredity (Science Metrix)
- Genotype (MeSH)
- Humans (MeSH)
- In Situ Hybridization, Fluorescence (MeSH)
- Karyotype (MeSH)
- Magnetic Resonance Imaging (MeSH)
- Metabolism, Inborn Errors (MeSH)
- Muscle Hypotonia (MeSH)
- Pedigree (MeSH)
- Phenotype (MeSH)
- Psychomotor Disorders (MeSH)
- Symptom Assessment (MeSH)
published in
- Clinical Dysmorphology Journal