• Issue

    JIMD Reports: Volume 64, Issue 3

    215-258
    May 2023
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ISSUE INFORMATION

Open Access

Issue Information

  • Pages: 215-216
  • First Published: 04 May 2023

CASE REPORTS

Open Access

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

Lynne Rumping,  Petra J. W. Pouwels,  Nicole I. Wolf,  Holger Rehmann,  Mirjam M. C. Wamelink,  Quinten Waisfisz,  Judith J. M. Jans,  Hubertus C. M. T. Prinsen,  Jiddeke M. van de Kamp,  Peter M. van Hasselt, 
  • Pages: 217-222
  • First Published: 24 February 2023
Open Access

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

Jessie Poquérusse,  Melinda Nolan,  David R. Thorburn,  Johan L. K. Van Hove,  Marisa W. Friederich,  Donald R. Love,  Juliet Taylor,  Christopher A. Powell,  Michal Minczuk,  Russell G. Snell,  Klaus Lehnert,  Emma Glamuzina,  Jessie C. Jacobsen, 
  • Pages: 223-232
  • First Published: 22 January 2023
Open Access

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem

RaeLynn Forsyth,  Ryan H. Peretz,  Angela Dempsey,  Jacquelyn Britton,  Lisa Kratz,  Ada Hamosh,  Hilary Vernon,  Mark L. Batshaw,  David Valle, 
  • Pages: 233-237
  • First Published: 29 January 2023
Open Access

Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine

Nour Elkhateeb,  Sarah Hyde,  Sarah L. Hogg,  Daniel Allsop,  Arun Shankar,  Patrick Deegan,  Chong Y. Tan, 
  • Pages: 238-245
  • First Published: 03 March 2023

RESEARCH REPORTS

Open Access

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

Bianca Peters,  Felix Wiemers,  Dominic Lenz,  Stefan Kölker,  Georg F. Hoffmann,  Siegmund Köhler,  Christian Staufner, 
  • Pages: 246-251
  • First Published: 15 February 2023
Open Access

Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study

Sarah C. Grünert,  Annieke Venema,  Jamas LaFreniere,  Blair Schneider,  Enrique Contreras,  Saskia B. Wortmann,  Terry G. J. Derks, 
  • Pages: 252-258
  • First Published: 19 April 2023