Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

Journal of Inherited Metabolic Disease

Volumn 23, Issue 8, 2000, Pages 847-848

  Goodman, B K ^a   Rutberg, J ^a   Lin, W W ^b   Pulver, A E ^a   Thomas, G H ^a   Geraghty, M T ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL DEFENSE MEDICAL CENTER   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

PROLINE; PROLINE DEHYDROGENASE;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DIGEORGE SYNDROME; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FREQUENCY; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HYPERPROLINEMIA; INBORN ERROR OF METABOLISM; METAPHASE; NEWBORN; PATHOGENESIS; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PROLINE; PROLINE OXIDASE; SYNDROME;

EID: 0034509614     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1026773005303     Document Type: Article

References (4)

1. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-1 hyperprolinaemia
2. Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: Evidence for a contiguous gene syndrome locating the proline oxidase gene
3. Disorders of proline and hydroxyproline metabolism