Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

Mitochondrial diseases are a group of genetic disorders leading to the dysfunction of mitochondrial energy metabolism pathways. We aimed to assess the clinical phenotype and the biochemical cerebrospinal fluid (CSF) biogenic amine profiles of patients with different diagnoses of genetic mitochondria...

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Veröffentlicht in:	Journal of inherited metabolic disease 2018-12, Vol.41 (6), p.1147-1158
Hauptverfasser:	Batllori, Marta, Molero-Luis, Marta, Ormazabal, Aida, Montero, Raquel, Sierra, Cristina, Ribes, Antonia, Montoya, Julio, Ruiz-Pesini, Eduardo, O’Callaghan, Mar, Pias, Leticia, Nascimento, Andrés, Palau, Francesc, Armstrong, Judith, Yubero, Delia, Ortigoza-Escobar, Juan D., García-Cazorla, Angels, Artuch, Rafael
Format:	Artikel
Sprache:	eng
Schlagworte:	Basal ganglia Biochemistry Biogenic Amines - cerebrospinal fluid Cerebrospinal fluid DNA sequencing DNA, Mitochondrial - genetics Dopamine Dopamine receptors Energy metabolism Folic acid Genetic disorders High-performance liquid chromatography Homovanillic acid Homovanillic Acid - cerebrospinal fluid Human Genetics Humans Internal Medicine Medicine Medicine & Public Health Metabolic Diseases Mitochondrial Diseases - cerebrospinal fluid Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Mitochondrial DNA Monoamines Mutation Neurotransmission Original Article Pediatrics Phenotypes Point Mutation Pterins - cerebrospinal fluid Sequence Deletion Statistical analysis Tetrahydrofolates - cerebrospinal fluid Tetrahydrofolates - deficiency Vitamin B Vitamin deficiency
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