1
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant...

2
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- A Middle...

3
Published 2019
Springer Berlin Heidelberg
Table of Contents: ..., and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C Disease in a...

4
Published 2019
Springer Berlin Heidelberg
Table of Contents: ...I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing...

5
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry Disease -- Mutations in GMPPB...

6
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...

7
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Dehydrogenase Deficiency -- Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D...

8
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Mutation in Wolman Disease -- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast...

9
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease -- Congenital Lactic...

10
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert...

11
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Disease and Their Parents in Japan: A Literature Review -- Swallow Prognosis and Follow-Up Protocol...

12
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet -- Early Diagnosed and Treated Glutaric...

13
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency...

14
Published 2016
Springer Berlin Heidelberg
Subjects: ...Diseases...

15
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress...

16
Published 2016
Springer Berlin Heidelberg
Table of Contents: ...? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease -- LARS2 Variants...

17
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange...

18
Published 2016
Springer Berlin Heidelberg
Subjects: ...Diseases...

19
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification...

20
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease -- Improvement of Diffusion Tensor Imaging...