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The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2013, Volume 108, Issue 2, pp. S18 - S19
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, pp. 2246 - 2255
Journal Article
Human Mutation, ISSN 1059-7794, 07/2018, Volume 39, Issue 7, pp. 1014 - 1023
Journal Article
The Journal of Nutrition, ISSN 0022-3166, 02/2017, Volume 147, Issue 2, p. 211
Background: Phenylketonuria is characterized by mutations in the Phe hydroxylase gene that leads to the accumulation of Phe in plasma and the brain. The... 
Phenylketonuria | Care and treatment | Usage | Proteins in human nutrition | Amino acids | Oxidation-reduction reaction | Leucine | Children | Food and nutrition | Health aspects
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 369 - 372
Abstract Pyruvate carboxylase (PC) is a biotin-containing enzyme that is responsible for the adenosine triphosphate-dependent carboxylation of pyruvate to... 
Original Article | flaccid paralysis | ketosis | DISEASE | lactic acidosis | PEDIATRICS | LACTIC-ACIDOSIS | pyruvate carboxylase | MUTATIONS | PROLONGED SURVIVAL | MOLECULAR-BASIS | hypotonia | CLINICAL NEUROLOGY
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 06/2011, Volume 53, Issue 6, pp. 565 - 568
Diagnosis of mitochondrial disease is often a challenge because of the extreme heterogeneity of the clinical phenotype and the variety of underlying gene... 
MANAGEMENT | COMPLEX-I-DEFICIENCY | LEIGH-SYNDROME | DISEASE | STROKE-LIKE-EPISODES | DISORDERS | PEDIATRICS | MELAS | DIAGNOSTIC-CRITERIA | DNA G13513A MUTATION | CLINICAL NEUROLOGY | CHILDREN | Humans | Family Health | Male | Mutation - genetics | MELAS Syndrome - genetics | Magnetic Resonance Imaging | Phenotype | DNA, Mitochondrial - genetics | MELAS Syndrome - pathology | Adult | Female | Child | Infant, Newborn
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2016, Volume 47, Issue 4, pp. 263 - 267
Abstract We describe for the first time two patients with succinic semialdehyde dehydrogenase (SSADH) deficiency, who were found to have abnormal... 
Short Communication | vigabatrin toxicity | taurine | retinopathy | SSADH | neuroprotection | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Canadian Journal of Neurological Sciences, ISSN 0317-1671, 08/2009, Volume 36, Issue 2, pp. S67 - S72
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2015, Volume 115, Issue 2-3, pp. 78 - 83
Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased... 
Sapropterin | Breath test | Phenylketonuria | Phenylalanine hydroxylase | 13 C-phenylalanine | Stable isotopes
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 10/2019, Volume 7, Issue 10, pp. e961 - n/a
Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic... 
whole genome sequencing | HSAN | DNM1L | intradermal histamine test | epileptic encephalopathy | self‐injury | Profiling | Epilepsy | Genomics | Genes | Menopause | Amino acids | Genomes | Neuropathy | Patients | Delay | Gene sequencing | Genotype & phenotype | Pain | Autonomic nervous system | Encephalopathy | Genetics | Mutation | Growth hormone | Deoxyribonucleic acid--DNA
Journal Article