• Issue

    JIMD Reports: Volume 64, Issue 6

    401-476
    November 2023
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ISSUE INFORMATION

Open Access

Issue Information

  • Pages: 401-402
  • First Published: 03 November 2023

CASE REPORTS

Open Access

Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management

Lea Abou Haidar,  Panayotis Pachnis,  Garrett K. Gotway,  Min Ni,  Ralph J. DeBerardinis,  Markey C. McNutt, 
  • Pages: 403-409
  • First Published: 07 September 2023
Open Access

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

Hiroaki Hanafusa,  Katsuya Nakamura,  Yuji Kamijo,  Masashi Kitahara,  Takashi Ehara,  Tsuneaki Yoshinaga,  Kaoru Aoki,  Nagaaki Katoh,  Tomomi Yamaguchi,  Tomoki Kosho,  Yoshiki Sekijima, 
  • Pages: 410-416
  • First Published: 07 September 2023
Open Access

S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review

Angela Lee,  Renatta Knox,  Margaret Reynolds,  Erin McRoy,  Hoanh Nguyen, 
  • Pages: 417-423
  • First Published: 01 September 2023
Open Access

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

Rodrigo Tzovenos Starosta,  Nino Kerashvili,  Cassandra Pruitt,  Matthew J. Schultz,  Suzanne W. Boyer,  Eva Morava,  Maria Laura Duque Lasio,  Dorothy K. Grange, 
  • Pages: 424-433
  • First Published: 20 September 2023
Open Access

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

Shelby L. Mills,  Paige Roberts,  Myla Ashfaq,  Kathryn Leal,  Hope Northrup,  Deborah L. Brown,  David Rodriguez-Buritica,  Laura S. Farach, 
  • Pages: 434-439
  • First Published: 21 October 2023
Open Access

A case of hyperlysinemia identified by urine newborn screening

Mehdi Yeganeh,  Christiane Auray-Blais,  Bruno Maranda,  Amanda Sabovic,  Robert J. DeVita,  Michael B. Lazarus,  Sander M. Houten, 
  • Pages: 440-445
  • First Published: 22 October 2023

RESEARCH REPORTS

Open Access

No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH study

Chloé Giret,  Yann Dos Santos,  Hélène Blasco,  Christophe Paget,  Loïc Gonzalez,  Nathalie Tressel,  Maeva Dieu,  Adrien Bigot,  Valérie Gissot,  Alexandra Audemard-Verger,  François Maillot, 
  • Pages: 446-452
  • First Published: 04 October 2023
Open Access

Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well—A 10-year follow-up in the Faroe Islands

Rannvá K. Abrahamsen,  Allan M. Lund,  Jan Rasmussen, 
  • Pages: 453-459
  • First Published: 11 September 2023
Open Access

Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease

Paulina Dabrowska-Schlepp,  Andreas Busch,  Jin-Song Shen,  Rachel Y. Cheong,  Lone Bruhn Madsen,  Daniel Mascher,  Raphael Schiffmann,  Andreas Schaaf, 
  • Pages: 460-467
  • First Published: 12 September 2023
Open Access

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

Rachel S. Carling,  Zoe Barclay,  Nathan Cantley,  Erin C. Emmett,  Sarah L. Hogg,  Yael Finezilber,  Danja Schulenburg-Brand,  Elaine Murphy,  Stuart J. Moat, 
  • Pages: 468-476
  • First Published: 16 October 2023