Early disease progression of Hurler syndrome

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

(2015) Patrick V. Hopkins et al.   JOURNAL OF PEDIATRICS

Early treatment is associated with improved cognition in Hurler syndrome

(2014) Michele D. Poe et al.   ANNALS OF NEUROLOGY

The natural history of MPS I: global perspectives from the MPS I Registry

(2014) Michael Beck et al.   GENETICS IN MEDICINE

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

(2013) Sandra DK Kingma et al.   Orphanet Journal of Rare Diseases

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

(2013) Shuan-Pei Lin et al.   Orphanet Journal of Rare Diseases

First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

(2012) Silvia Paciotti et al.   CLINICA CHIMICA ACTA

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I

(2010) Janet A. Thomas et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective

(2008) Holly R Martin et al.   ACTA PAEDIATRICA

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

(2008) L. A. Clarke et al.   PEDIATRICS

Mucopolysaccharidosis I: Management and Treatment Guidelines

(2008) J. Muenzer et al.   PEDIATRICS