Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

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Cerebral folate deficiency

(2010) Keith Hyland et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Vitamin B6: A Molecule for Human Health?

(2010) Hanjo Hellmann et al.   MOLECULES

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tetrahydrobiopterin, superoxide, and vascular dysfunction

(2009) Jeannette Vásquez-Vivar   FREE RADICAL BIOLOGY AND MEDICINE

Pyridoxal 5′-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients

(2008) Aida Ormazabal et al.   MOLECULAR GENETICS AND METABOLISM

MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

(2008) A. Garcia-Cazorla et al.   NEUROLOGY

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

(2007) Sofia Duarte et al.   BRAIN & DEVELOPMENT