JIMD Reports, Volume 35

1. Front Matter

   Pages i-vi

   PDF

2. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability

   • Austin Larson, James D. Weisfeld-Adams, Tim A. Benke, Penelope E. Bonnen

   Pages 1-5

3. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

   • Sarah U. Morton, Edward G. Neilan, Roy W. A. Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne et al.

   Pages 7-15

4. Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital

   • Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano et al.

   Pages 17-22

5. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature

   • Alison Christy, William Nyhan, Jenny Wilson

   Pages 23-28

6. Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient

   • E. Maines, G. Morandi, G. Gugelmo, F. Ion-Popa, N. Campostrini, A. Pasini et al.

   Pages 29-31

7. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

   • Gerarda Cappuccio, Paldeep S. Atwal, Taraka R. Donti, Kiki Ugarte, Nadia Merchant, William J. Craigen et al.

   Pages 33-37

8. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

   • Sema Kalkan Ucar, Johannes A. Mayr, René G. Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B. Wortmann

   Pages 39-45

9. Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience

   • Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth

   Pages 47-52

10. The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

    • Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster

    Pages 53-58

11. Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

    • Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai et al.

    Pages 59-65

12. Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation

    • S. Varma, A. D. McIntyre, R. A. Hegele

    Pages 67-70

13. Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts

    • Damien Bouvier, Christine Vianey-Saban, Séverine Ruet, Cécile Acquaviva

    Pages 71-78

14. Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria

    • Adam M. Taylor, Koen P. Vercruysse

    Pages 79-85

15. Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

    • Britt van Erven, Lindsey Welling, Sandra C. van Calcar, Artemis Doulgeraki, François Eyskens, Joanna Gribben et al.

    Pages 87-96

16. Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report

    • Evelyn L. Fisher, Rose A. Sevcik, MaryAnn Romski

    Pages 97-103

17. White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother

    • Tokola Anna, Brandstack Nina, Hakkarainen Antti, Salli Eero, Åberg Laura, Autti Taina

    Pages 105-115

18. Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother

    • Anna Tokola, Nina Brandstack, Antti Hakkarainen, Eero Salli, Laura Åberg, Taina Autti

    Pages 117-117

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 and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, 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, United Kingdom

  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

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