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Journal Article
International Journal of Epidemiology, ISSN 0300-5771, 04/2011, Volume 40, Issue 2, pp. 503 - 512
Journal Article
Journal Article
CENTRAL EUROPEAN JOURNAL OF PUBLIC HEALTH, ISSN 1210-7778, 06/2019, Volume 27, Issue 2, pp. 153 - 159
Objectives: Presymptomatic detection of patients with rare diseases (RD), defined by a population frequency less than 1: 2,000, is the task of newborn... 
DIAGNOSIS | rare disease | MANAGEMENT | CONSENSUS | CONGENITAL ADRENAL-HYPERPLASIA | DISORDERS | LESSONS | SOCIETY | epidemiology | Czech Republic | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | CYSTIC-FIBROSIS | newborn screening | public health | prevention
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2013, Volume 123, Issue 4, pp. 1809 - 1820
Journal Article
European Child & Adolescent Psychiatry, ISSN 1018-8827, 2/2017, Volume 26, Issue 2, pp. 143 - 154
Many patients who visit a centre for hereditary metabolic diseases remarkably also suffer from a child psychiatric disorder. Those child psychiatric disorders... 
Psychosis | ADHD | ASD | Medicine & Public Health | Child psychiatric disorder | Eating disorder | Psychiatry | Metabolic disorders | Learning disorder | POSTPARTUM PSYCHOSIS | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | PHENYLKETONURIA | METACHROMATIC LEUKODYSTROPHY | UREA CYCLE DISORDERS | AUTISM SPECTRUM DISORDERS | DEFICIENCY | CHILDREN | DISEASE | MITOCHONDRIAL DYSFUNCTION | PEDIATRICS | ALPHA-MANNOSIDOSIS | Humans | Male | Metabolism, Inborn Errors - epidemiology | Feeding and Eating Disorders - psychology | Learning Disorders - etiology | Feeding and Eating Disorders - epidemiology | Feeding and Eating Disorders - etiology | Learning Disorders - psychology | Female | Learning Disorders - epidemiology | Mental Disorders - diagnosis | Child | Mental Disorders - etiology | Mental Disorders - epidemiology | Comorbidity | Psychotic Disorders - psychology | Psychotic Disorders - epidemiology | Mental Disorders - psychology | Metabolism, Inborn Errors - diagnosis | Adolescent | Attention Deficit Disorder with Hyperactivity - etiology | Attention Deficit Disorder with Hyperactivity - psychology | Metabolism, Inborn Errors - psychology | Metabolism, Inborn Errors - complications | Attention Deficit Disorder with Hyperactivity - epidemiology | Psychotic Disorders - etiology | Physiological aspects | Autism | Learning disabilities | Attention-deficit hyperactivity disorder | Coma | Anorexia | Inborn errors of metabolism | Mental disorders | Schizophrenia | Child psychology | Metabolic syndrome | Learning | Psychoses | Childhood | Psychiatrists | Children | Child psychiatry | At risk | Attention deficit hyperactivity disorder | Eating disorders | Metabolic diseases | Behavior disorders | Metabolism | Autistic children | Patients | Counselling | Psychiatric symptoms | Psychiatric disorders | Child & adolescent psychiatry | Review
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2011, Volume 104, pp. S86 - S92
Hyperphenylalaninemia (HPA, OMIM #261600), which includes phenylketonuria (PKU), is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH),... 
Genotype | Phenylketonuria | Phenotype | Tetrahydrobiopterin | Hyperphenylalaninemia
Journal Article
Clinical Neurology and Neurosurgery, ISSN 0303-8467, 2011, Volume 113, Issue 9, pp. 727 - 730
Journal Article