6533b860fe1ef96bd12c38ae
RESEARCH PRODUCT
1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice
Eugen MengelMarc C. PattersonAudrey MullerMarie T. VanierFrits A. WijburgH DrevonJames E. WraithMercedes PinedaB. Schwierinsubject
Pediatricsmedicine.medical_specialtyNiemann–Pick disease type Cbusiness.industryClinical settingsJaundicemedicine.diseaseDisease courseClinical PracticeJuvenile onsetDisease registryPediatrics Perinatology and Child HealthCohortmedicinemedicine.symptombusinessdescription
Background and Aim An international disease registry was started in September 2009 to evaluate the long-term disease course of NP-C in clinical settings. Methods Descriptive data from enrolment are presented for all patients with available data who were included in the Registry as of 19 th August 2011. Results 121 patients have been enrolled. The median (range) age at enrolment was 16.9 (0.9−56.6) years, age at onset of neurological manifestations was 8.2 ( Conclusions Over two-thirds of this NP-C cohort had infantile or juvenile onset of neurological manifestations; neonatal jaundice was observed more frequently in these patients versus adolescent/adult-onset patients.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2012-10-01 | Archives of Disease in Childhood |