Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report

Haematologica. 2002 Aug;87(8):ECR30.

Authors

Majda Benedik-Dolnicar¹, Lana Strmecki, Eduard Paschke, Cordula Steglich, Olga Kranjc, Radovan Komel

Affiliation

¹ Haemophilia Centre, Pediatric Clinic, SI-1000 Ljubljana, Slovenia. [email protected]

PMID: 12161377

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosome Inversion
Codon, Nonsense / genetics
DNA Mutational Analysis
Europe / epidemiology
Factor VIII / genetics
Female
Gene Frequency
Genetic Carrier Screening
Hemophilia A / complications*
Hemophilia A / epidemiology
Hemophilia A / genetics
Humans
Iduronidase / genetics
Incidence
Male
Mucopolysaccharidosis I / complications*
Mucopolysaccharidosis I / epidemiology
Mucopolysaccharidosis I / genetics
Point Mutation
Pregnancy
Pregnancy Complications
Slovenia / epidemiology

Substances

Codon, Nonsense
Factor VIII
Iduronidase