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clinical report » clinical reports, clinical records, clinical response

1
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... (DTI) Parameters with Decoppering Treatment in Wilson’s Disease -- Vitamin E Improves Clinical Outcome...

2
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion -- ALG13-CDG with Infantile...

3
Published 2019
Springer Berlin Heidelberg
Table of Contents: ... of Glycosylation (LeQCDG): A Patient-Centered Study -- Demographics, Clinical Features, and Mortality of Acute...

4
Published 2017
Springer Berlin Heidelberg
Table of Contents: ...-Type Inborn Errors of Metabolism -- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical...

5
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial...

6
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value...

7
Published 2017
Springer Berlin Heidelberg
Table of Contents: ... in Infantile Onset Pompe Disease -- Clinical and Genetic Characteristics of Romanian Patients...

8
Published 2016
Springer Berlin Heidelberg
Table of Contents: ..., Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form...

9
Published 2019
Springer Berlin Heidelberg
Table of Contents: ...: A Case Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive...

10
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...

11
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation...

12
Published 2016
Springer Berlin Heidelberg
...JIMD Reports...

13
Published 2017
Springer Berlin Heidelberg
...JIMD Reports...

14
Published 2017
Springer Berlin Heidelberg
...JIMD Reports...

15
Published 2017
Springer Berlin Heidelberg
...JIMD Reports...

16
Published 2019
Springer Berlin Heidelberg
...JIMD Reports...

17
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... with Biallelic Mutations in DNAJC12 -- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report...

18
Published 2018
Springer Berlin Heidelberg
Table of Contents: ... of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three...

19
Published 2016
Springer Berlin Heidelberg
Table of Contents: ... in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature...

20
Published 2018
Springer Berlin Heidelberg
Table of Contents: ...-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient...