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Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2011, Volume 104, Issue 3, pp. 362 - 368
We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM... 
Leucodystrophy | Cerebral folate deficiency | Labyrinthine aplasia | Epilepsy | FOLR1 gene | FGF3 gene | BIOCHEMICAL FEATURES | MEDICINE, RESEARCH & EXPERIMENTAL | GROWTH-FACTOR 3 | FGF3 MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DIHYDROFOLATE-REDUCTASE DEFICIENCY | BETAINE | NEUROLOGIC DISEASE | FOLIC-ACID | INNER-EAR AGENESIS | GENETICS & HEREDITY | MEGALOBLASTIC-ANEMIA | PLASMA HOMOCYSTEINE | Humans | Dihydroxyphenylalanine - analogs & derivatives | Molecular Sequence Data | Male | DNA Primers - genetics | Electroencephalography | Epilepsy - etiology | Tyrosine - analogs & derivatives | Base Sequence | Child | Levodopa - cerebrospinal fluid | Congenital Microtia | Fibroblast Growth Factor 3 - genetics | Pyridoxal Phosphate - therapeutic use | Ear - abnormalities | Sequence Analysis, DNA | Congenital Abnormalities - pathology | Syndrome | Radiography | Dihydroxyphenylalanine - metabolism | Folic Acid Deficiency - pathology | Folate Receptor 1 - genetics | Skull - diagnostic imaging | Ear, Inner - abnormalities | Tooth Abnormalities - pathology | Epilepsy - drug therapy | Ear - pathology | Epilepsy - pathology | Levodopa - metabolism | Codon, Nonsense - genetics | Phosphates | Deafness | Genetic disorders | Child development | Genes | Physiological aspects | Fibroblast growth factors | Seizures (Medicine) | Folic acid
Journal Article
Annual Review of Nutrition, ISSN 0199-9885, 08/2011, Volume 31, Issue 1, pp. 177 - 201
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2018, Volume 396, pp. 112 - 118
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 03/2013, Volume 18, Issue 3, pp. 369 - 381
Journal Article
American Journal of Physiology - Cell Physiology, ISSN 0363-6143, 10/2012, Volume 303, Issue 8, pp. 834 - 842
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
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