1
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate...

2
Published 2018
Springer Berlin Heidelberg
Table of Contents: ...Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency -- Role...

3
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female -- The Use of d2 and Benton Tests...

4
Published 2017
Springer Berlin Heidelberg
Table of Contents: ...Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase...

5
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer...

6
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-Co...

7
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4...

8
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1...