• Issue

    JIMD Reports: Volume 63, Issue 4

    263-387
    July 2022
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ISSUE INFORMATION

Open Access

Issue Information

  • Pages: 263-264
  • First Published: 06 July 2022

CASE REPORTS

Open Access

Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency

Loai A. Shakerdi,  Jenny McNulty,  Barbara Gillman,  Claire M. McCarthy,  Jessica Ivory,  Alison Sheerin,  James J. O'Byrne,  Jennifer C. Donnelly,  Eileen P. Treacy, 
  • Pages: 265-270
  • First Published: 12 April 2022
Open Access

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency

Ashley Hertzog,  Arthavan Selvanathan,  Rebecca Halligan,  Timothy Fazio,  Gerard de Jong,  Drago Bratkovic,  Kaustuv Bhattacharya,  Adviye Ayper Tolun,  Bruce Bennetts,  Katrina Fisk, 
  • Pages: 271-275
  • First Published: 12 April 2022
Open Access

Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

Albina Tummolo,  Piero Leone,  Maria Tolomeo,  Rita Solito,  Matteo Mattiuzzo,  Francesca Romana Lepri,  Tania Lorè,  Roberta Cardinali,  Donatella De Giovanni,  Simonetta Simonetti,  Maria Barile, 
  • Pages: 276-291
  • First Published: 07 May 2022
Open Access

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature

Lucia Laugwitz,  Vidiyaah Santhanakumaran,  Mareike Spieker,  Judith Boehringer,  Benjamin Bender,  Volkmar Gieselmann,  Stefanie Beck-Woedl,  Gernot Bruchelt,  Klaus Harzer,  Ingeborg Kraegeloh-Mann,  Samuel Groeschel, 
  • Pages: 292-302
  • First Published: 04 May 2022
Open Access

Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib

Sarah Catharina Grünert,  Stefanie Rosenbaum-Fabian,  Anke Schumann,  Anne-Christine Selbitz,  Waltraut Merz,  Andrea Gieselmann,  Ute Spiekerkoetter, 
  • Pages: 303-308
  • First Published: 18 May 2022
Open Access

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment

Eran Tallis,  Cecile L. Karsenty,  Amanda B. Grimes,  Lina B. Karam,  Sarah H. Elsea,  Vernon Reed Sutton,  Brandy L. Rawls-Castillo,  Ning Liu,  Claudia Soler-Alfonso, 
  • Pages: 309-315
  • First Published: 22 May 2022
Open Access

Ascites in infantile onset type II Sialidosis

Kaoutar Tazi,  Vanessa Guy-Viterbo,  Alexander Gheldof,  Aurélie Empain,  Anne Paternoster,  Corinne De Laet, 
  • Pages: 316-321
  • First Published: 03 June 2022

RESEARCH REPORTS

Open Access

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations

Isaac Bernhardt,  Emma Glamuzina,  Leah K. Dowsett,  Dianne Webster,  Detlef Knoll,  Kevin Carpenter,  Michael J. Bennett,  Michelle Maeda,  Callum Wilson, 
  • Pages: 322-329
  • First Published: 26 March 2022
Open Access

Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

Aseel Bin Sawad,  Arti Pothukuchy,  Mark Badeaux,  Victoria Hodson,  Gillian Bubb,  Kristina Lindsley,  Jennifer Uyei,  George A. Diaz, 
  • Pages: 330-340
  • First Published: 25 March 2022
Open Access

Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urine

Andrew T. Hughes,  Anna M. Milan,  Ella Shweihdi,  James Gallagher,  Lakshminarayan Ranganath, 
  • Pages: 341-350
  • First Published: 03 April 2022
Open Access

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

Mohammad S. Z. Ahmad,  Mahmoud Ahmed,  Milad Khedr,  Alfredo Borgia,  Andrea Madden,  Lakshminarayan R. Ranganath,  Stephen Kaye, 
  • Pages: 351-360
  • First Published: 09 April 2022
Open Access

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

Harriet E. O. Cant,  Iro Chatzidaki,  Birgitta Olsson,  Mattias Rudebeck,  Jean-Baptiste Arnoux,  Richard Imrich,  Lucy A. Eddowes,  Lakshminarayan R. Ranganath, 
  • Pages: 361-370
  • First Published: 10 May 2022
Open Access

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation

Stefanie Maier,  Miroslav Zivicnjak,  Lorenz Grigull,  Julia B. Hennermann,  Charlotte Aries,  Britta Maecker-Kolhoff,  Martin Sauer,  Anibh M. Das,  Rita Beier, 
  • Pages: 371-378
  • First Published: 26 April 2022
Open Access

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients

Lydia Healy,  Meabh O'Shea,  Jennifer McNulty,  Graham King,  Eilish Twomey,  Eileen Treacy,  Ellen Crushell,  Joanne Hughes,  Ina Knerr,  Ahmad Ardeshir Monavari, 
  • Pages: 379-387
  • First Published: 14 June 2022