1
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C -- Prevalence of Mucopolysaccharidosis...

2
Published 2019
Springer Berlin Heidelberg
Table of Contents: ..., and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C Disease in a...

3
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease -- Improvement of Diffusion Tensor Imaging...

4
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency...

5
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... -- In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History -- Multiple, Successful...

6
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index...