Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report.
Benedik-Dolnicar
Majda
M
Haemophilia Centre, Pediatric Clinic, SI-1000 Ljubljana, Slovenia. Majda.Benedik-Dolnicar@mf.uni-lj.si
Strmecki
Lana
L
Paschke
Eduard
E
Steglich
Cordula
C
Kranjc
Olga
O
Komel
Radovan
R
D002675:Child, Preschool; D007446:Chromosome Inversion; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005060:Europe / Q000453:epidemiology; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007068:Iduronidase / Q000235:genetics; D015994:Incidence; D008297:Male; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D017354:Point Mutation; D011247:Pregnancy; D011248:Pregnancy Complications; D017524:Slovenia / Q000453:epidemiology
D018389:Codon, Nonsense; D005169:Factor VIII; D007068:Iduronidase