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Select item 118979011.

An atypical presentation in a child with propionic acidemia? Better think twice!

Tim Burkhardt, Katharine L. Kastor, Stine Christ, Thomas Opladen, Christian Staufner, Stefanie Beck‐Wödl, Tobias Haack, Maja Hempel, Angelika Seitz, Stefan Kölker

JIMD Rep. 2025 Mar; 66(2): e12464. Published online 2025 Mar 12. doi: 10.1002/jmd2.12464

PMCID:: PMC11897901

Article PDF–6.7M

Select item 118648752.

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient‐Centered Approach

Eleonore M. Corazolla, Mirjam Langeveld, Marion M. M. G. Brands, Barbara Sjouke, Carla E. M. Hollak

JIMD Rep. 2025 Mar; 66(2): e70003. Published online 2025 Feb 26. doi: 10.1002/jmd2.70003

PMCID:: PMC11864875

Article PDF–1.4M

Select item 118432203.

Correction to “Sleep Quality in Children With Hepatic Glycogen Storage Diseases, a Prospective Observational Pilot Study”

JIMD Rep. 2025 Mar; 66(2): e70004. Published online 2025 Feb 21. doi: 10.1002/jmd2.70004

Corrects:: JIMD Rep. 2025 Jan; 66(1): e12462.

PMCID:: PMC11843220

Correction PDF–143K

Select item 118106224.

Correction to “Expanding the Genetic and Clinical Spectrum of SLC25A42 Associated Disorders and Testing of Pantothenic Acid to Improve CoA Level In Vitro”

JIMD Rep. 2025 Mar; 66(2): e70002. Published online 2025 Feb 10. doi: 10.1002/jmd2.70002

Corrects:: JIMD Rep. 2024 Nov; 65(6): 417–425.

PMCID:: PMC11810622

Correction PDF–148K

Select item 117433925.

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates

Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi

JIMD Rep. 2025 Jan; 66(1): e12468. Published online 2025 Jan 19. doi: 10.1002/jmd2.12468

PMCID:: PMC11743392

Article PDF–419K

Select item 117361466.

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai

JIMD Rep. 2025 Jan; 66(1): e12466. Published online 2025 Jan 16. doi: 10.1002/jmd2.12466

PMCID:: PMC11736146

Article PDF–1.5M

Select item 117178957.

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt

JIMD Rep. 2025 Jan; 66(1): e12467. Published online 2025 Jan 9. doi: 10.1002/jmd2.12467

PMCID:: PMC11717895

Article PDF–1.6M

Select item 116677628.

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven‐Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers

JIMD Rep. 2025 Jan; 66(1): e12455. Published online 2024 Dec 22. doi: 10.1002/jmd2.12455

PMCID:: PMC11667762

Article PDF–1.1M

Select item 116677649.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

JIMD Rep. 2025 Jan; 66(1): e12459. Published online 2024 Dec 16. doi: 10.1002/jmd2.12459

PMCID:: PMC11667764

Article PDF–5.0M

Select item 1166776710.

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease

Shao Ching Tu, Marium Khan, Katie Wolfe, Sakil S. Kulkarni, Elizabeth Toolan, Dorothy K. Grange

JIMD Rep. 2025 Jan; 66(1): e12460. Published online 2024 Nov 25. doi: 10.1002/jmd2.12460

PMCID:: PMC11667767

Article PDF–682K

Select item 1166775211.

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study

Christine Mae S. Avila, Mary Ann R. Abacan

JIMD Rep. 2025 Jan; 66(1): e12458. Published online 2024 Nov 17. doi: 10.1002/jmd2.12458

PMCID:: PMC11667752

Article PDF–1.9M

Select item 1166776812.

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed

JIMD Rep. 2025 Jan; 66(1): e12454. Published online 2024 Nov 11. doi: 10.1002/jmd2.12454

PMCID:: PMC11667768

Article PDF–1.6M

Select item 1154057913.

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey

Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck

JIMD Rep. 2024 Nov; 65(6): 450–460. Published online 2024 Oct 29. doi: 10.1002/jmd2.12456

PMCID:: PMC11540579

Article PDF–1.6M

Select item 1154056114.

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine

Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist

JIMD Rep. 2024 Nov; 65(6): 442–449. Published online 2024 Oct 1. doi: 10.1002/jmd2.12448

PMCID:: PMC11540561

Article PDF–1.3M

Select item 1154057215.

In vivo glycerol metabolism in patients with glycerol kinase deficiency

Ankit Shah, Huiting Xu, Hyok Joon Kwon, Fredric E. Wondisford

JIMD Rep. 2024 Nov; 65(6): 392–400. Published online 2024 Sep 17. doi: 10.1002/jmd2.12452

PMCID:: PMC11540572

Article PDF–1.8M

Select item 1154056516.

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters

JIMD Rep. 2024 Nov; 65(6): 433–441. Published online 2024 Aug 27. doi: 10.1002/jmd2.12447

PMCID:: PMC11540565

Article PDF–1.4M

Select item 1155846817.

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews

JIMD Rep. 2024 Sep; 65(5): 341–353. Published online 2024 Aug 19. doi: 10.1002/jmd2.12442

PMCID:: PMC11558468

Article PDF–3.4M

Select item 1155846618.

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

John S. Wang, Rebecca L. Koch, Daniel Kenney‐Jung, Erin Huggins, Sirajbir S. Sodhi, Andrew P. Landstrom, Dilraj S. Grewal, Priya S. Kishnani

JIMD Rep. 2024 Sep; 65(5): 313–322. Published online 2024 Aug 15. doi: 10.1002/jmd2.12440

PMCID:: PMC11558466

Article PDF–1.3M

Select item 1155846719.

Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay

JIMD Rep. 2024 Sep; 65(5): 305–312. Published online 2024 Jul 11. doi: 10.1002/jmd2.12437

PMCID:: PMC11558467

Article PDF–969K

Select item 1155847020.

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders

Eline C. B. Eskes, Laura van Dussen, Johannes M. F. G. Aerts, Martijn J. C. van der Lienden, Mario Maas, Erik M. Akkerman, André B. P. van Kuilenburg, Barbara Sjouke, Carla E. M. Hollak

JIMD Rep. 2024 Sep; 65(5): 330–340. Published online 2024 Jul 4. doi: 10.1002/jmd2.12420