Fatal malonyl coa decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

Annals of Human Genetics

Volumn 71, Issue 6, 2007, Pages 705-712

  Malvagia, S ^a   Papi, L ^b   Morrone, A ^a   Donati, M A ^a   Ciani, F ^a   Pasquini, E ^a   la Marca, G ^a   Scholte, H R ^c   Genuardi, M ^b   Zammarchi, Enrico ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Malonic aciduria; Malonyl CoA decarboxylase; Malonylcarnitine; UDP; Uniparental disomy

Indexed keywords

CARNITINE; DIURETIC AGENT; GENOMIC DNA; MALONIC ACID; MALONYL COENZYME A DECARBOXYLASE; RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOHYDRATE DIET; CASE REPORT; CHILD DEATH; CHROMOSOME 16; DRUG MEGADOSE; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; EXTRACHROMOSOMAL INHERITANCE; GENE DELETION; GENERAL CONDITION IMPROVEMENT; GENETIC ANALYSIS; GENETIC COUNSELING; HEART ATRIUM HYPERTROPHY; HEART RIGHT VENTRICLE HYPERTROPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; INFANT DISEASE; LOW FAT DIET; MALE; MALONIC ACIDURIA; MALONYL COENZYME A DECARBOXYLASE DEFICIENCY; MICROSATELLITE MARKER; NOSE FEEDING; NUCLEOTIDE SEQUENCE; PALLOR; PATERNITY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PULMONARY HYPERTENSION; RECURRENCE RISK; SKIN FIBROBLAST; SPASTICITY; TACHYPNEA; TELOMERE; TREMOR; TRICUSPID VALVE REGURGITATION; UNIPARENTAL DISOMY; URINE LEVEL;

BASE SEQUENCE; CARBOXY-LYASES; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MALONATES; METABOLISM, INBORN ERRORS; SEQUENCE DELETION; TELOMERE; UNIPARENTAL DISOMY;

EID: 34948871508     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2007.00373.x     Document Type: Article

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