Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

American Journal of Human Genetics

Volumn 58, Issue 3, 1996, Pages 457-471

  Vervoort, Raf ^a   Rafiqul Islam, M ^b   Sly, William S ^b   Zabot, Marie Thérèse ^c   Kleijer, Wim J ^d   Chabas, Amparo ^e   Fensom, Anthony ^f   Young, Elisabeth P ^g   Liebaers, Inge ^a   Lissens, Willy ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HÔPITAL DEBROUSSE   (France)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^e Institut de Bioquimica Clinica Barcelona   (Spain)

^f UNIVERSITY OF LONDON   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; COMPLEMENTARY DNA; LYSOSOME ENZYME; MESSENGER RNA;

ALLELE; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; FETUS HYDROPS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MONKEY; MUCOPOLYSACCHARIDOSIS TYPE 7; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPONTANEOUS ABORTION;

ADULT; ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FIBROBLASTS; GENE FREQUENCY; GENETIC SCREENING; GLUCURONIDASE; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VII; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; RNA, MESSENGER;

ANIMALIA; HYDROPS;

EID: 19144365761     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Agarwal R, Perl A (1993) PCR amplification of highly GC-rich DNA template after denaturation by NaOH. Nucleic Acids Res 21:5283-5284
2. Beaudet A, DiFerrante N, Ferry G, Nichols B, Mullins C (1975) Variation in the phenotypic expression of β-glucuronidase deficiency. J Pediatr 86:388-394
3. Bonduelle M, Lissens W, Goosens A, De Catte L, Foulon W, Denis R, Jauniaux E, et al (1991) Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. Genet Couns 2:227-232
4. Chabas A, Giros M, Guardiola A (1991) Low β-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. J Inher Metab Dis 14:908-914
5. Chabas A, Guardiola A (1993) β-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid. Prenat Diagn 13:429-433