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1
Published 2017
Springer Berlin Heidelberg
Table of Contents: ...Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic...

2
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... -- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation -- PNPO...

3
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy...

4
Published 2016
Springer Berlin Heidelberg
Table of Contents: ...Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct...

5
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other...

6
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4...

7
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Concentrations in Tyrosinemia Type 1 Patients? -- A Homozygous Mutation in GPT2 Associated with Nonsyndromic...

8
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Deficiency -- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT...

9
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha...