Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Human Molecular Genetics

Volumn 24, Issue 11, 2014, Pages 3050-3057

  Ng, Bobby G ^a   Wolfe, Lynne A ^b   Ichikawa, Mie ^a   Markello, Thomas ^b   He, Miao ^d   Tifft, Cynthia J ^b,c   Gahl, William A ^b,c   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALPHA TOCOPHEROL; ASPARTATE CARBAMOYLTRANSFERASE; ASPARTIC ACID; BETA ALANINE; CARBOXYLIC ACID; CARNITINE; CASPASE ACTIVATED DEOXYRIBONUCLEASE; CITRIC ACID; CYTIDINE TRIPHOSPHATE; DIHYDROOROTASE; DNA; GUANOSINE; IMMUNOGLOBULIN; LACTIC ACID; PROBIOTIC AGENT; PYRIMIDINE; PYRUVIC ACID; RETINOL; RNA; SUGAR; TRANSFERRIN; URIC ACID; URIDINE TRIPHOSPHATE; VITAMIN D; CAD TRIFUNCTIONAL ENZYME; CARBAMOYL PHOSPHATE SYNTHASE (GLUTAMINE HYDROLYSING); PYRIMIDINE DERIVATIVE;

ACANTHOCYTOSIS; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; APGAR SCORE; ARTICLE; BIALLELIC MUTATION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL FEATURE; DIARRHEA; DNA SYNTHESIS; ENZYME DEFICIENCY; GENE MUTATION; GENE SEQUENCE; GENETIC COMPLEMENTATION; HETEROZYGOTE; HUMAN; INDEL MUTATION; KIDNEY TUBULE ACIDOSIS; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; PAN DISACCHARIDASE DEFICIENCY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PYRIMIDINE SYNTHESIS; RNA SYNTHESIS; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSFERRIN BLOOD LEVEL; URIC ACID URINE LEVEL; WEIGHT GAIN; ANIMAL; BIOSYNTHESIS; CHO CELL LINE; CRICETULUS; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETICS; GLYCOSYLATION; HAMSTER; METABOLIC DISEASES; NUCLEOTIDE SEQUENCE; PROTEIN PROCESSING;

ANIMALS; ASPARTATE CARBAMOYLTRANSFERASE; BASE SEQUENCE; CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING); CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; CRICETULUS; DIHYDROOROTASE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GLYCOSYLATION; HETEROZYGOTE; HUMANS; MALE; METABOLIC DISEASES; MUTATION, MISSENSE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PYRIMIDINES; SEQUENCE DELETION;

EID: 84930727023     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv057     Document Type: Article

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