Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

American Journal of Medical Genetics, Part A

Volumn 146, Issue 13, 2008, Pages 1741-1747

  Vieira, Taiane ^a,b   Schwartz, Ida ^a,b   Muñoz, Verónica ^a   Pinto, Louise ^a   Steiner, Carlos ^c   Ribeiro, Márcia ^d   Boy, Raquel ^e   Ferraz, Victor ^f   De Paula, Ana ^f   Kim, Chong ^f   Acosta, Angelina ^g   Giugliani, Roberto ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c UNIVERSITY OF CAMPINAS   (Brazil)

^d FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^e HOSPITAL UNIVERSITÁRIO PEDRO ERNESTO   (Brazil)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g FEDERAL UNIVERSITY OF BAHIA   (Brazil)

Author keywords

Glycosaminoglycans; Inborn errors of metabolism; Lysosomal storage diseases; Mucopolysaccharidoses; Natural history

Indexed keywords

GLYCOSAMINOGLYCAN;

ADOLESCENT; ARTICLE; BRAZIL; CLINICAL FEATURE; DIAGNOSTIC TEST; FACE MALFORMATION; FEMALE; HEALTH PRACTITIONER; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; JOINT CONTRACTURE; MAJOR CLINICAL STUDY; MALE; MAROTEAUX LAMY SYNDROME; METABOLIC DISORDER; MORQUIO SYNDROME TYPE A; MUCOPOLYSACCHARIDOSIS; MUCOPOLYSACCHARIDOSIS IVB; MUCOPOLYSACCHARIDOSIS TYPE 7; ONSET AGE; PATIENT CARE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANFILIPPO SYNDROME TYPE A; SANFILIPPO SYNDROME TYPE B; SANFILIPPO SYNDROME TYPE C; SCHOOL CHILD; SKELETON MALFORMATION; SYMPTOMATOLOGY;

ADOLESCENT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSES; QUESTIONNAIRES; SIBLINGS;

EID: 47149102515     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32320     Document Type: Article

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