Clinical, biochemical and molecular findings in a two-generation Morquio A family

Clinical Genetics

Volumn 53, Issue 5, 1998, Pages 369-374

  Tylki Szymańska, Anna ^a   Czartoryska, Barbara ^b   Bunge, Susanna ^c   Van Diggelen, Otto P ^d   Kleijer, Wim J ^d   Poorthuis, Ben J H M ^e   Huijmans, Jan G M ^d   Górska, Danuta ^b  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

GAG excretion; Morquio A; Mucopolysaccharidosis IVA

Indexed keywords

N ACETYLGALACTOSAMINE 6 SULFATASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; HUMAN; LEUKOCYTE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MORQUIO SYNDROME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

EID: 2642676878     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02747.x     Document Type: Article

References (11)

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