1
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Gene Mutations -- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone...

2
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion...

3
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... -- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients -- Long-Term Systematic...

4
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients...

5
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation -- Liver Failure as the Presentation...

6
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe...

7
Published 2019
Springer Berlin Heidelberg
Table of Contents: ...: A Report of 13 Patients -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency...

8
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer...

9
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... Deletion Within the PGK1 Gene in Males with PGK1 Deficiency...