• Issue

    JIMD Reports: Volume 64, Issue 2

    121-213
    March 2023
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

ISSUE INFORMATION

Open Access

Issue Information

  • Pages: 121-122
  • First Published: 02 March 2023

CASE REPORTS

Open Access

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)

Ruqaiah Altassan,  Dimpna C. Albert-Brotons,  Mohammad Alowain,  Zohair Al-Halees,  Jaak Jaeken,  Eva Morava, 
  • Pages: 123-128
  • First Published: 22 November 2022
Open Access

Visual impairment in mucopolysaccharidosis VI

Augusto Monteiro Magalhães,  Ana Filipa Moleiro,  Esmeralda Rodrigues,  Sérgio Castro,  José Fonseca,  Elisa Leão-Teles, 
  • Pages: 129-137
  • First Published: 19 January 2023
Open Access

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

Natasha Rudy,  Kazuhiro Aoki,  Amitha Ananth,  Lynda Holloway,  Cindy Skinner,  Anna Hurst,  Michael Tiemeyer,  Richard Steet, 
  • Pages: 138-145
  • First Published: 29 November 2022
Open Access

Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum

Christopher D. Ma,  Denise Faust,  Herbert L. Bonkovsky, 
  • Pages: 146-149
  • First Published: 13 December 2022
Open Access

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease

Caoimhe Howard,  Arundhati Dev-Borman,  John Stokes,  Declan O'Rourke,  Ciara Gillespie,  Eilish Twomey,  Ina Knerr,  Ritma Boruah, 
  • Pages: 150-155
  • First Published: 08 December 2022
Open Access

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II

Margot Eyskens,  Luc Bruyndonckx,  André B. P. Van Kuilenburg,  François Eyskens, 
  • Pages: 156-160
  • First Published: 07 January 2023
Open Access

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

Alfonso Galderisi,  Elsa Kermorvant-Duchemin,  Alejandra Daruich,  Adeline Alice Bonnard,  Alexandre Lapillonne,  Marie-Stéphanie Aubelle,  Bruna Perrella,  Yoann Vial,  Héléne Cave,  Marianne Berdugo,  Pierre-Henri Jarreau,  Michel Polak,  Jacques Beltrand, 
  • Pages: 161-166
  • First Published: 29 January 2023

RESEARCH REPORTS

Open Access

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

Stephen J. Staklinski,  Mario C. Chang,  Rebecca C. Ahrens-Nicklas,  Shagun Kaur,  Arianna K. Stefanatos,  Elizabeth E. Dudenhausen,  Matthew E. Merritt,  Michael S. Kilberg, 
  • Pages: 167-179
  • First Published: 05 January 2023
Open Access

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening

Isaac Bernhardt,  Emma Glamuzina,  Bryony Ryder,  Detlef Knoll,  Natasha Heather,  Mark De Hora,  Dianne Webster,  Callum Wilson, 
  • Pages: 180-186
  • First Published: 21 September 2022
Open Access

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis

Line Gutte Borgwardt,  Ferdinando Ceravolo,  Giulia Zardi,  Andrea Ballabeni,  Allan Meldgaard Lund, 
  • Pages: 187-198
  • First Published: 25 November 2022
Open Access

Health-related quality of life and patient-reported outcome measurements in patients with cystinosis

Stefanie Witt,  Kaja Kristensen,  Katharina Hohenfellner,  Julia Quitmann, 
  • Pages: 199-211
  • First Published: 16 December 2022

LETTER TO THE EDITOR

Open Access

First decade anniversary of the United Kingdom National Alkaptonuria Centre

Milad Khedr,  Nick Sireau,  George Bou-Gharios,  Jim A. Gallagher,  Lakshminarayan R. Ranganath, 
  • Pages: 212-213
  • First Published: 18 January 2023