JIMD Reports - Case and Research Reports, Volume 13

1. Front Matter

   Pages i-vi

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2. Newborn Screening for Glutaric Aciduria-II: The New England Experience

   • I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin et al.

   Pages 1-14

3. Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington State

   • Ashleigh Fleischman, John D. Thompson, Mike Glass

   Pages 15-21

4. Application of a Second-Tier Newborn Screening Assay for C5 Isoforms

   • T Cloppenborg, N Janzen, HJ Wagner, U Steuerwald, M Peter, AM Das

   Pages 23-26

5. Cystinosis with Sclerotic Bone Lesions

   • S. Sirrs, P. Munk, P. I. Mallinson, H. Ouellette, G. Horvath, S. Cooper et al.

   Pages 27-31

6. Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

   • Özlem Ünal, Turgay Coşkun, Diclehan Orhan, Ayşegül Tokatl, Ali Dursun, Burcu Hişmi et al.

   Pages 33-36

7. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation

   • Bryce A. Mendelsohn, Neil Mehta, Bilal Hameed, Melike Pekmezci, Seymour Packman, Jeffrey Ralph

   Pages 37-41

8. Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat

   • Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki et al.

   Pages 43-51

9. Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

   • Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava et al.

   Pages 53-57

10. Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion

    • Lorenza Pugni, Enrica Riva, Carlo Pietrasanta, Claudio Rabacchi, Stefano Bertolini, Cristina Pederiva et al.

    Pages 59-64

11. Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

    • Etienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, Nawal Jazouli, Philippe Clapuyt, Florence Lacaille et al.

    Pages 65-72

12. Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

    • Kathryn L. Lovell, Mei Zhu, Meghan C. Drummond, Robert C. Switzer III, Karen H. Friderici

    Pages 73-81

13. High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria

    • Linn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, Yngve Thomas Bliksrud, Runar Almaas

    Pages 83-90

14. A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females

    • S. Dreha-Kulaczewski, V. Kalscheuer, A. Tzschach, H. Hu, G. Helms, K. Brockmann et al.

    Pages 91-99

15. Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

    • Sarah Leuders, Eva Wolfgart, Torsten Ott, Marcel du Moulin, Agnes van Teeffelen-Heithoff, Lydia Vogelpohl et al.

    Pages 101-109

16. Vestibular and Saccadic Abnormalities in Gaucher’s Disease

    • Luke Chen, G. Michael Halmagyi, Michael J. Todd, Swee T. Aw

    Pages 111-118

17. Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry

    • Romain Filee, Roland Schoos, François Boemer

    Pages 119-128

18. Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo Syndrome

    • Kathleen A. Delaney, Kyle R. Rudser, Brianna D. Yund, Chester B. Whitley, Patrick A. J. Haslett, Elsa G. Shapiro

    Pages 129-137

19. Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells

    • Makoto Kamei, Karissa Kasperski, Maria Fuller, Emma J. Parkinson-Lawrence, Litsa Karageorgos, Valery Belakhov et al.

    Pages 139-147

20. Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful

    • A. M. Das, K. Goedecke, U. Meyer, N. Kanzelmeyer, S. Koch, S. Illsinger et al.

    Pages 149-158

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 book reviews:

“Clearly this is a highly specialized publication. It should be of great use to metabolic disorders specialists to keep current in the area. In addition, it is a great educational tool for medical genetics residents and genetics counseling students. … There are very few journals that deal exclusively with metabolic disorders, so this represents a unique publication. It is well planned and informative.” (Luis F. Escobar, Doody’s Book Reviews, September, 2014)

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

  Johannes Zschocke

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

  K. Michael Gibson

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

  Garry Brown

• Department of Pediatrics IGMD, Tulane University Medical Center, New Orleans, USA

  Eva Morava

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

  Verena Peters

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