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JIMD Reports - Volume 12

  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Book

Part of the JIMD Reports book series (JIMD, volume 12)

Table of contents

  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
  21. Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
    A. C. C. Ho, C. W. Fung, T. S. Siu, O. C. K. Ma, C. W. Lam, S. Tam et al.
    Pages 129-134

About this book

Introduction

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.

Keywords

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • K Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.College of PharmacyWashington State University Clinical PharmacologyPullmanUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Department of Pediatrics IGMDRadboud University Nijmegen Medical CenterNijmegenThe Netherlands
  5. 5.Center for Child and Adolescent Medicine Heidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-03461-4
  • Copyright Information SSIEM and Springer International Publishing Switzerland 2014
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-03460-7
  • Online ISBN 978-3-319-03461-4
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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Biomedicine
Pharma
Biotechnology