1 Table of Contents: “... of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe...”

2 Table of Contents: “... with Transaldolase Deficiency -- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE -- Stability...”

3 Table of Contents: “...Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS...”

4 Table of Contents: “... Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4...”

5 Table of Contents: “... -- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation -- PNPO...”

6 Table of Contents: “... Deficiency -- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G...”

7 Table of Contents: “...Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct...”

8 Table of Contents: “... Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience -- A Novel Truncating FLAD1...”

9 Table of Contents: “... to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer...”

10 Table of Contents: “... Deficiency -- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT...”

11 Table of Contents: “... Having a Novel LDLR Mutation -- Development of a Tandem Mass Spectrometry Method for Rapid Measurement...”