JIMD Reports - Volume 12

1. Front Matter

   Pages i-vi

   PDF

2. Propionic Acidemia and Optic Neuropathy: A Report of Two Cases

   • Carolina Arias, Erna Raimann, Pilar Peredo, Juan Francisco Cabello, Gabriela Castro, Alf Valiente et al.

   Pages 1-4

3. Chronic Kidney Disease in an Adult with Propionic Acidemia

   • H. J. Vernon, S. Bagnasco, A. Hamosh, C. J. Sperati

   Pages 5-10

4. Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome

   • Natalie B. Miller, Avraham Beigelman, Elizabeth Utterson, Marwan Shinawi

   Pages 11-15

5. Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation

   • Fady Hannah-Shmouni, Sandra Sirrs, Michelle M. Mezei, Paula J. Waters, Andre Mattman

   Pages 17-23

6. Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes

   • Klaus Harzer, Stefanie Beck-Wödl, Peter Bauer

   Pages 25-29

7. Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

   • Renzo Manara, Daniela Concolino, Angelica Rampazzo, Alessandra Zanetti, Rossella Tomanin, Roberto Faggin et al.

   Pages 31-35

8. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

   • Jessica Nouws, Flemming Wibrand, Mariël van den Brand, Hanka Venselaar, Morten Duno, Allan M. Lund et al.

   Pages 37-45

9. Pulmonary Manifestations in a Patient with Transaldolase Deficiency

   • Nada Jassim, Mohammed AlGhaihab, Suhail Al Saleh, Majid Alfadhel, Mirjam M. C. Wamelink, Wafaa Eyaid

   Pages 47-50

10. Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

    • Jayesh Sheth, Mehul Mistri, Frenny Sheth, Raju Shah, Ashish Bavdekar, Koumudi Godbole et al.

    Pages 51-63

11. A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency

    • Tomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, Tomoshi Nakajiri, Katsuhiro Kobayashi, Makio Oka et al.

    Pages 65-69

12. Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts

    • Natalia Santos Ferreira, Michal Goldschmidt-Arzi, Helena Sabanay, Judith Storch, Thierry Levade, Maria Gil Ribeiro et al.

    Pages 71-77

13. Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

    • Matthew A. Lines, C. Anthony Rupar, Jack W. Rip, Berivan Baskin, Peter N. Ray, Robert A. Hegele et al.

    Pages 79-84

14. Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria

    • Sepideh Nazi, Farzaneh Rohani, Firoozeh Sajedi, Akbar Biglarian, Arya Setoodeh

    Pages 85-89

15. A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities

    • Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou

    Pages 91-98

16. Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease

    • J. Baruteau, A. Broomfield, V. Crook, N. Finnegan, K. Harvey, D. Burke et al.

    Pages 99-102

17. Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

    • Lubov Blumkin, Esther Leshinsky-Silver, Ayelet Zerem, Keren Yosovich, Tally Lerman-Sagie, Dorit Lev

    Pages 103-107

18. Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

    • T. P. Slavin, S. J. Zaidi, C. Neal, B. Nishikawa, L. H. Seaver

    Pages 109-114

19. No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3

    • C. Le Bizec, S. Nicole, E. Panagiotakaki, N. Seta, S. Vuillaumier-Barrot

    Pages 115-120

20. Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency

    • Charles A. LeDuc, Elizabeth E. Crouch, Ashley Wilson, Jay Lefkowitch, Mirjam M. C. Wamelink, Cornelis Jakobs et al.

    Pages 121-127

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

From the reviews:

“Clearly the information is unique and appropriate for clinicians involved in the care of patients with inherited metabolic disorders. This is a good source of updated information on well-established clinical phenotypes as well newly described disorders. … JIMD is unique in its inclusion of clinical reports and short research reports, which makes it very attractive to busy clinicians wishing to publish their unique cases. It is a must-have in all metabolic clinics.” (Luis F. Escobar, Doody’s Book Reviews, May, 2014)

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

  Johannes Zschocke

• College of Pharmacy, Washington State University Clinical Pharmacology, Pullman, USA

  K Michael Gibson

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

  Garry Brown

• Department of Pediatrics IGMD, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

  Eva Morava

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

  Verena Peters

Policies and ethics