SUBJECTS : Genetics | Inborn Errors | Biochemics | Molecular Genetics | Inherited Metabolic Disorder
LATEST MANUSCRIPTS IN JIMD Reports
- Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima. Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman. JIMD reports. 2023, 64 (6): 410-416
Cited : 0Read More - Angela Lee, Renatta Knox, Margaret Reynolds, Erin McRoy, Hoanh Nguyen. S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review. JIMD reports. 2023, 64 (6): 417-423Cited : 2Read More
- Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J Schultz, Suzanne W Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K Grange. PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations. JIMD reports. 2023, 64 (6): 424-433Cited : 0Read More
- Shelby L Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L Brown, David Rodriguez-Buritica, Laura S Farach. Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin. JIMD reports. 2023, 64 (6): 434-439Cited : 0Read More
- Mehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, Amanda Sabovic, Robert J DeVita, Michael B Lazarus, Sander M Houten. A case of hyperlysinemia identified by urine newborn screening. JIMD reports. 2023, 64 (6): 440-445Cited : 1Read More
- Chloé Giret, Yann Dos Santos, Hélène Blasco, Christophe Paget, Loïc Gonzalez, Nathalie Tressel, Maeva Dieu, Adrien Bigot, Valérie Gissot, Alexandra Audemard-Verger, François Maillot. No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH study. JIMD reports. 2023, 64 (6): 446-452Cited : 1Read More
- Rannvá K Abrahamsen, Allan M Lund, Jan Rasmussen. Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands. JIMD reports. 2023, 64 (6): 453-459Cited : 4Read More
- Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, Rachel Y Cheong, Lone Bruhn Madsen, Daniel Mascher, Raphael Schiffmann, Andreas Schaaf. Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease. JIMD reports. 2023, 64 (6): 460-467Cited : 2Read More
- Rachel S Carling, Zoe Barclay, Nathan Cantley, Erin C Emmett, Sarah L Hogg, Yael Finezilber, Danja Schulenburg-Brand, Elaine Murphy, Stuart J Moat. Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices. JIMD reports. 2023, 64 (6): 468-476Cited : 2Read More
- David G Jackson, Rebecca L Koch, Surekha Pendyal, Robert Benjamin, Priya S Kishnani. Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy. JIMD reports. 2023, 64 (5): 303-311Cited : 1Read More
- Malak Ali Alghamdi, Anne O'Donnell-Luria, Naif A Almontashiri, Wajeih Y AlAali, Hebatallah H Ali, Harvey L Levy. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD reports. 2023, 64 (5): 312-316Cited : 2Read More
- Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre. JIMD reports. 2023, 64 (5): 317-326Cited : 1Read More
- Louisa Adams, Arthavan Selvanathan, Kiera J Batten, Nancy van Doorn, Susan Thompson, Ashleigh Mitchell, Hugo Sampaio, Troy Dalkeith, Jacqui Russell, Carolyn J Ellaway, Michelle Farrar, Carolyn Broderick, Kaustuv Bhattacharya. Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales. JIMD reports. 2023, 64 (5): 327-336Cited : 1Read More
- Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B Delatycki, Joy Yaplito-Lee, Winita Hardikar, Rebecca Halligan. Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review. JIMD reports. 2023, 64 (5): 337-345Cited : 0Read More
- Claire Horgan, Kelly Watts, Dipak Ram, Stewart Rust, Rebekah Hutton, Simon Jones, Rob Wynn. A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead. JIMD reports. 2023, 64 (5): 346-352Cited : 6Read More
