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Journal of the Neurological Sciences, ISSN 0022-510X, 2018, Volume 396, pp. 112 - 118
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2010, Volume 99, Issue 1, pp. 58 - 61
We describe a 3.5-year-old female with Alpers disease with a genotype of p.A467T/p.G848S and with a lethal outcome. Laboratory investigation revealed elevated... 
Mitochondria | Neopterin | Cytokines | Folate–antibodies | Epilepsy | POLG | Folate-antibodies | MEDICINE, RESEARCH & EXPERIMENTAL | PTERINS | ACID | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROGRESSIVE NEURONAL DEGENERATION | Neopterin, Cytokines | MITOCHONDRIAL-DNA | LIVER-DISEASE | OPHTHALMOPLEGIA | GENETICS & HEREDITY | MUTATIONS | DNA Polymerase gamma | Central Nervous System - metabolism | Folate Receptors, GPI-Anchored | Autoantibodies - blood | Humans | Central Nervous System - pathology | Child, Preschool | Interleukin-8 - cerebrospinal fluid | DNA-Directed DNA Polymerase - genetics | Brain - metabolism | Diffuse Cerebral Sclerosis of Schilder - genetics | Inflammation Mediators - cerebrospinal fluid | Fatal Outcome | Inflammation Mediators - metabolism | Female | Interleukin-6 - cerebrospinal fluid | Carrier Proteins - immunology | Diffuse Cerebral Sclerosis of Schilder - cerebrospinal fluid | Neopterin - cerebrospinal fluid | Interferon-gamma - cerebrospinal fluid | Diffuse Cerebral Sclerosis of Schilder - metabolism | Receptors, Cell Surface - immunology | Folic Acid - cerebrospinal fluid | Autoantibodies - cerebrospinal fluid | Brain - pathology | Folic Acid - metabolism | Amino Acid Substitution | Autoimmunity | Enzymes | Nervous system diseases | Autoantibodies | Blindness | DNA polymerases | Mitochondrial DNA | Diagnosis | Seizures (Medicine) | Folic acid
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 217
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 7/2008, Volume 38, Issue 6, pp. 1170 - 1177
We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had... 
Folic Acid | Pediatrics | Autism | 5-MTHF | Folate transporters | 5-methyltetrahydrofolate | Psychology | Public Health/Gesundheitswesen | Cerebral folate deficiency | Child & School Psychology | cerebral folate deficiency | OXIDATIVE STRESS | folate transporters | PSYCHOLOGY, DEVELOPMENTAL | MALABSORPTION | FOLINIC ACID | CEREBROSPINAL-FLUID | folic Acid | autism | CHILDREN | Neurological Impairments | Language Skills | Psychomotor Skills | Mental Retardation | Developmental Delays | Behavior Problems | Pervasive Developmental Disorders | Genetics | Children | Seizures | Symptoms (Individual Disorders) | Antisocial Behavior | Autistic Disorder - physiopathology | Humans | Tetrahydrofolates - cerebrospinal fluid | Child, Preschool | Infant | Male | Reference Values | Epilepsy - physiopathology | Psychomotor Disorders - psychology | Dyskinesias - psychology | Female | Psychomotor Disorders - physiopathology | Autistic Disorder - diagnosis | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Developmental Disabilities - physiopathology | Epilepsy - psychology | Regression (Psychology) | Brain - physiopathology | Dyskinesias - physiopathology | Autistic Disorder - psychology | Folic Acid - cerebrospinal fluid | Epilepsy - diagnosis | Folic Acid Deficiency - physiopathology | Folic Acid Deficiency - psychology | Intellectual Disability - physiopathology | Pregnancy | Dyskinesias - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Adolescent | Intellectual Disability - psychology | Folic Acid Deficiency - diagnosis | Developmental Disabilities - psychology
Journal Article
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 07/2008, Volume 28, Issue 28, pp. 7219 - 7230
Journal Article
Neurology, ISSN 0028-3878, 03/2005, Volume 64, Issue 6, pp. 1088 - 1090
Journal Article
Journal Article