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cholestasis, intrahepatic - genetics (28) 28
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BMC Medical Genetics, ISSN 1471-2350, 01/2019, Volume 20, Issue 1, pp. 3 - 3
BackgroundTandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of... 
Newborns | PCR exome amplification and re-sequencing (PEARS) | Phenylketonuria (PKU) | Compound heterozygotes | Tandem mass spectroscopy (MS MS) | Inborn errors of metabolism (IEM) | DIAGNOSIS | GENETICS | PHENYLKETONURIA | GENETICS & HEREDITY | DEFICIENCY | Phenylalanine Hydroxylase - genetics | Molecular Diagnostic Techniques - methods | Phenylketonurias - diagnosis | Lipid Metabolism, Inborn Errors - genetics | Prospective Studies | Phenylketonurias - genetics | Glutarates | Glycine N-Methyltransferase - genetics | Humans | Glycine N-Methyltransferase - deficiency | Male | Genetic Counseling | Whole Exome Sequencing - methods | Amino Acid Metabolism, Inborn Errors - genetics | Retrospective Studies | Tandem Mass Spectrometry - methods | Infant, Newborn | Acyl-CoA Dehydrogenase - genetics | Citrullinemia - genetics | Multiplex Polymerase Chain Reaction - methods | Genotype | Neonatal Screening - methods | Metabolism, Inborn Errors - genetics | Exome - genetics | Metabolism, Inborn Errors - diagnosis | Acyl-CoA Dehydrogenase - deficiency | Heterozygote | Mutation | Polymerase chain reaction | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Diagnosis | Mass spectrometry | Health aspects | Neonates | Inborn errors of metabolism | Dehydrogenases | Phenylalanine 4-monooxygenase | Laboratories | Genomics | Genes | Acyl-CoA dehydrogenase | Genotype & phenotype | Metabolites | Genotypes | Enzymes | Phenylketonuria | Genetic disorders | Congenital diseases | Phenylalanine | Hydroxylase | Mass spectroscopy | Hypothyroidism | Medical screening | Studies | Scientific imaging | Genetic engineering | Metabolic disorders
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
Journal Article
Journal Article
Acta Veterinaria Scandinavica, ISSN 0044-605X, 10/2010, Volume 52, Issue 1, pp. 56 - 56
Background: Bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase (DUMPS), complex vertebral malformation (CVM), bovine... 
ALLELE FREQUENCY ESTIMATION | BLAD | GENETIC MERIT | DUMPS | VETERINARY SCIENCES | CALVES | PREVALENCE | IDENTIFICATION | CARRIERS | MOLECULAR DEFINITION | FRIESIAN CATTLE | Purine-Pyrimidine Metabolism, Inborn Errors - veterinary | Factor XI Deficiency - veterinary | Molecular Sequence Data | Citrullinemia - epidemiology | Cattle Diseases - genetics | Spine - abnormalities | Cattle | Female | Factor XI Deficiency - epidemiology | Orotate Phosphoribosyltransferase - deficiency | Purine-Pyrimidine Metabolism, Inborn Errors - epidemiology | Amino Acid Sequence | Citrullinemia - genetics | Citrullinemia - veterinary | Leukocyte-Adhesion Deficiency Syndrome - genetics | Leukocyte-Adhesion Deficiency Syndrome - epidemiology | Orotate Phosphoribosyltransferase - genetics | Cattle Diseases - epidemiology | Genotype | Orotidine-5'-Phosphate Decarboxylase - deficiency | DNA - genetics | DNA - chemistry | Orotidine-5'-Phosphate Decarboxylase - genetics | Sequence Alignment | Animals | Polymerase Chain Reaction - veterinary | Polymorphism, Restriction Fragment Length | Turkey - epidemiology | Leukocyte-Adhesion Deficiency Syndrome - veterinary | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Heterozygote | Factor XI Deficiency - genetics | Medical examination | Genetic disorders | Pyrimidine nucleotides | Analysis | Genetic aspects | Research | Diagnosis | Coagulation protein disorders | Holstein-Friesian cattle | Genetic screening | Diseases | Studies | Genetics | Mutation | Genes | Index Medicus
Journal Article
Gene, ISSN 0378-1119, 09/2012, Volume 505, Issue 2, pp. 269 - 275
Journal Article
Human Mutation, ISSN 1059-7794, 02/2002, Volume 19, Issue 2, pp. 122 - 130
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult‐onset type II citrullinemia (CTLN2) and found seven mutations in... 
NICCD | liver disease | mutation detection | adult‐onset type II citrullinemia | CTLN2 | neonatal intrahepatic cholestasis caused by citrin deficiency | citrin deficiency | multiple DNA diagnosis | Japanese | SLC25A13 | Mutation detection | Multiple DNA diagnosis | Adult-onset type II citrullinemia | Neonatal intrahepatic cholestasis caused by citrin deficiency | Liver disease | Citrin deficiency | ORTHOTOPIC LIVER-TRANSPLANTATION | ARGININOSUCCINATE SYNTHETASE | adult-onset type II citrullinemia | CLASSICAL CITRULLINEMIA | MESSENGER-RNA | GENE | UREA CYCLE | GENETICS & HEREDITY | II CITRULLINEMIA | Cholestasis - genetics | Japan - epidemiology | Citrullinemia - diagnosis | Gene Frequency - genetics | Cholestasis - congenital | Cholestasis - complications | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Citrullinemia - epidemiology | Male | DNA Mutational Analysis - methods | Mitochondrial Proteins | Genetic Testing - methods | Mutation, Missense - genetics | Mitochondrial Membrane Transport Proteins | Base Sequence | Hepatitis - genetics | Polymerase Chain Reaction | Female | Infant, Newborn | Citrullinemia - genetics | Cholestasis - diagnosis | Calcium-Binding Proteins - deficiency | Genotype | Mutation - genetics | Hepatitis - congenital | Hepatitis - complications | Hepatitis - diagnosis | Polymorphism, Restriction Fragment Length | Membrane Transport Proteins | Age of Onset | Alleles | Codon, Nonsense - genetics | Calcium-Binding Proteins - genetics | Index Medicus
Journal Article
Journal Article