JIMD Reports, Volume 15

1. Front Matter

   Pages i-vi

   PDF

2. 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

   • James J Pitt, Frank Willis, Nicholas Tzanakos, Ruth Belostotsky, Yaacov Frishberg

   Pages 1-6

3. Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood

   • Anne Roubergue, Bertrand Philibert, Agnès Gautier, Alice Kuster, Karine Markowicz, Thierry Billette de Villemeur et al.

   Pages 7-12

4. Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

   • Sanne van Dongen, Ruth M. Brown, Garry K. Brown, David R. Thorburn, Avihu Boneh

   Pages 13-27

5. Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

   • Kelly D. Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, Hong Lu, Joan E. Pellegrino, Ryan T. Miller et al.

   Pages 29-37

6. Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

   • Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. van Kuilenburg, Carla Carducci et al.

   Pages 39-45

7. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

   • Clara D. M. van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhas et al.

   Pages 47-57

8. Mortality in Patients with Morquio Syndrome A

   • Christine Lavery, Chris Hendriksz

   Pages 59-66

9. Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease

   • Erin R. McNamara, Jennifer Sullivan, Shashi K. Nagaraj, John S. Wiener, Priya S. Kishnani

   Pages 67-70

10. Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

    • Daria Diodato, Federica Invernizzi, Eleonora Lamantea, Gigliola Fagiolari, Rossella Parini, Francesca Menni et al.

    Pages 71-78

11. Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

    • Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, Judith L. Fridovich-Keil

    Pages 79-93

12. Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations

    • Elena Fridman, Avraham Zeharia, Tal Markus-Eidlitz, Yishai Haimi Cohen

    Pages 95-104

13. Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme®) to Agalsidase Alfa (Replagal®)

    • Kazuya Tsuboi, Hiroshi Yamamoto, Fuji Somura, Hiromi Goto

    Pages 105-111

14. Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy

    • Clara van Karnebeek, Gabriella Horvath, Tyler Murphy, Jacqueline Purtzki, Kristin Bowden, Sandra Sirrs et al.

    Pages 113-116

15. Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

    • Olivier Lidove, Frédéric Sedel, Frédéric Charlotte, Roseline Froissart, Marie T. Vanier

    Pages 117-121

16. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

    • Paulina Nieves Cobos, Cordula Steglich, René Santer, Zoltan Lukacs, Andreas Gal

    Pages 123-132

17. Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

    • Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, Judith L. Fridovich-Keil

    Pages 133-133

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

• endocrinology
• inherited metabolic diseases
• medical genetics
• pediatrics
• metabolic disease

• Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  Johannes Zschocke

• WSU Division of Health Sciences,Clinical Pharamacology Unit, Spokane, USA

  K. Michael Gibson

• Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

  Garry Brown

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

  Verena Peters

Policies and ethics