ISSN 2208-150X (Print)
ISSN 2208-1518 (Online)
THE BEST OF ICIEM 2017
RNA Sequencing Helps in the Genetic Diagnosis of Metabolic Disorders • Newborn Screening Programs
Should Be Aware of a Rare SNP in the Placental Riboflavin Transporter Gene • A Novel Signaling Pathway May
Mediate Cholesterol Homeostasis in Niemann-Pick Type C Disease • Experience With Hematopoietic Stem Cell
Transplantation for Mucopolysaccharidosis Type 1H
The production and distribution of this publication is sponsored by Sanofi Genzyme
13TH INTERNATIONAL CONGRESS
OF INBORN ERRORS OF
METABOLISM (ICIEM)
5–8 SEPTEMBER 2017
RIO DE JANEIRO • BRAZIL