JIMD Reports, Volume 43

1. Front Matter

   Pages i-vi

   PDF

2. Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study

   • Jana Matic, Nina A. Zeltner, Johannes Häberle

   Pages 1-6

3. Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

   • Kazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, Moyoko Tomiyasu, Noriko Aida, Tomohide Goto

   Pages 7-12

4. Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment

   • Mary Kay Koenig, Penelope E. Bonnen

   Pages 13-17

5. Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency

   • Louise Crowe, Vicki Anderson, Winita Hardikar, Avihu Boneh

   Pages 19-25

6. Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

   • Anja von Renesse, Susanne Morales-Gonzalez, Esther Gill, Gajja S. Salomons, Werner Stenzel, Markus Schuelke

   Pages 27-35

7. Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice

   • Ningning Guo, Victor DeAngelis, Changzhi Zhu, Edward H. Schuchman, Calogera M. Simonaro

   Pages 37-52

8. Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period

   • Teruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Ichiro Morioka, Hirokazu Tsukahara et al.

   Pages 53-61

9. Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

   • C. A. Stutterd, N. J. Lake, H. Peters, P. J. Lockhart, R. J. Taft, M. S. van der Knaap et al.

   Pages 63-70

10. Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I

    • Douglas Bush, Leighann Sremba, Kate Lomax, Jill Lipsett, David Ketteridge, Drago Bratkovic et al.

    Pages 71-77

11. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

    • Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck et al.

    Pages 79-83

12. Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion

    • Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda et al.

    Pages 85-90

13. Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

    • Leanne K. Winner, Neil R. Marshall, Robert D. Jolly, Paul J. Trim, Stephen K. Duplock, Marten F. Snel et al.

    Pages 91-101

14. Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

    • Colleen M. Carlston, Sacha Ferdinandusse, Judith A. Hobert, Rong Mao, Nicola Longo

    Pages 103-109

15. RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

    • D. Quelhas, J. Jaeken, A. Fortuna, L. Azevedo, A. Bandeira, G. Matthijs et al.

    Pages 111-116

16. Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)

    • Erika F. Augustine, Christopher A. Beck, Heather R. Adams, Sara Defendorf, Amy Vierhile, Derek Timm et al.

    Pages 117-124

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.

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

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

  Matthias Baumgartner

• Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA

  Marc Patterson

• Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

  Shamima Rahman

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

  Johannes Zschocke

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

  Verena Peters

Policies and ethics