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clinical report » clinical reports, clinical records, clinical results

1
Published 2013
Springer Berlin Heidelberg
...JIMD Reports...

2
Published 2014
Springer Berlin Heidelberg
...JIMD Reports...

3
Published 2013
Springer Berlin Heidelberg
...JIMD Reports...

4
Published 2013
Springer Berlin Heidelberg
...JIMD Reports...

5
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...

6
Published 2019
Springer Berlin Heidelberg
Table of Contents: ...: A Report of 13 Patients -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency...

7
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... -- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A...

8
Published 2017
Springer Berlin Heidelberg
Table of Contents: ...-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management...

9
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... (DTI) Parameters with Decoppering Treatment in Wilson’s Disease -- Vitamin E Improves Clinical Outcome...

10
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion -- ALG13-CDG with Infantile...

11
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... of Glycosylation (LeQCDG): A Patient-Centered Study -- Demographics, Clinical Features, and Mortality of Acute...

12
Published 2017
Springer Berlin Heidelberg
Table of Contents: ...-Type Inborn Errors of Metabolism -- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical...

13
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial...

14
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value...

15
Published 2014
Springer Berlin Heidelberg
...JIMD Reports...

16
Published 2014
Springer Berlin Heidelberg
...JIMD Reports...

17
Published 2014
Springer Berlin Heidelberg
...JIMD Reports...

18
Published 2015
Springer Berlin Heidelberg
...JIMD Reports...

19
Published 2015
Springer Berlin Heidelberg
...JIMD Reports...

20
Published 2015
Springer Berlin Heidelberg
...JIMD Reports...