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1
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Cases -- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed...

2
Published 2019
Springer Berlin Heidelberg
Table of Contents: ...I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing...

3
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features...

4
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Excretion -- New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria -- Screening...

5
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation -- Three Cases of Hereditary...

6
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... Adrenoleukodystrophy -- Psychosocial Functioning in Parents of MPS III Patients -- The Second Case of Saposin A...

7
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review...

8
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child...

9
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup...

10
Published 2019
Springer Berlin Heidelberg
Table of Contents: ...: A Case Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive...

11
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant...

12
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature...

13
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry Disease -- Mutations in GMPPB...

14
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Pompe Disease: A Case Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A...

15
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation...

16
Published 2016
Springer Berlin Heidelberg
...JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders...

17
Published 2015
Springer Berlin Heidelberg
...JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders...

18
Published 2015
Springer Berlin Heidelberg
...JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders...

19
Published 2015
Springer Berlin Heidelberg
...JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders...

20
Published 2015
Springer Berlin Heidelberg
...JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders...