SUBJECTS : Molecular Genetics | Endocrinolog
LATEST MANUSCRIPTS IN Molecular Genetics and Metabolism Reports
- Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-Wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A Wevers, Cheuk-Wing Fung. CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers. Molecular genetics and metabolism reports. 2024, 38: 101023
Cited : 1Read More - Tomoyo Itonaga, Miwako Maeda, Hiroshi Koga, Yuki Hasegawa, Kenji Ihara. Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening. Molecular genetics and metabolism reports. 2024, 38: 101024Cited : 0Read More
- Wei-Lin Huang, Maija R Steenari, Rebekah Barrick, Mariella T Simon, Richard Chang, Shaya S Eftekharian, Alexander Stover, Philip H Schwartz, Alexandra Latini, Jose E Abdenur. Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel mutation. Molecular genetics and metabolism reports. 2024, 38: 101025Cited : 0Read More
- Ana Chiesa, Norma Spécola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel Rf Vilela, Débora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernán Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandão Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz. Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico. Molecular genetics and metabolism reports. 2024, 38: 101026Cited : 0Read More
- Afaf Alsubhi, Manar Aldarwish, Pankaj B Agrawal, Saeed M Al Tala, Osama Eldadah, Abdulla A Alghamdi, Amal Silmi, Mohammed Almannai. A child with dilated cardiomyopathy and homozygous splice site variant in gene. Molecular genetics and metabolism reports. 2024, 38: 101027Cited : 0Read More
- Ellen R Elias, Lucas E Orth, Amy Li, Libin Xu, Sara M Jones, William B Rizzo. Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study. Molecular genetics and metabolism reports. 2024, 38: 101030Cited : 0Read More
- Manuel Pühringer, Astrid Eisenkölbl, Gudrun Gröppel. Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1. Molecular genetics and metabolism reports. 2024, 38: 101031Cited : 3Read More
- Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay. A different perspective into clinical symptoms in CPT I deficiency. Molecular genetics and metabolism reports. 2024, 38: 101032Cited : 0Read More
- Runxuan Du, Haishen Tian, Bingyi Zhao, Xuedong Shi, Yanmei Sun, Bo Qiu, Yali Li. A homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis. Molecular genetics and metabolism reports. 2024, 38: 101033Cited : 0Read More
- Zahra Beyzaei, Arman Mehrzadeh, Niko Hashemi, Bita Geramizadeh. The mutation spectrum and ethnic distribution of Wilson disease, a review. Molecular genetics and metabolism reports. 2024, 38: 101034Cited : 3Read More
- M Zhong, B Balakrishnan, A J Guo, K Lai. AAV9-based gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG). Molecular genetics and metabolism reports. 2024, 38: 101035Cited : 0Read More
- Amber Van Baelen, Laurence Roosens, Sylvie Devos, Stijn Verhulst, François Eyskens. A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry. Molecular genetics and metabolism reports. 2023, 37: 100993Cited : 0Read More
- Rafael Adrián Pacheco Orozco, Alejandro Padilla-Guzmán, Jessica María Forero-Delgadillo, Vanessa Amparo Ochoa Jiménez, Harry Pachajoa, Nancy Janeth Vargas Parra, Jaime M Restrepo. Schimke immuno-osseous dysplasia. A case report in Colombia. Molecular genetics and metabolism reports. 2023, 37: 100995Cited : 0Read More
- Raffaella Mistrulli, Caterina Micolonghi, Federico Follesa, Marco Fabiani, Erika Pagannone, Giulia D'Amati, Carla Giordano, Silvia Caroselli, Camilla Savio, Aldo Germani, Antonio Pizzuti, Vincenzo Visco, Simona Petrucci, Speranza Rubattu, Maria Piane, Camillo Autore. The role of genetic testing in suspected fulminant myocarditis: A case report. Molecular genetics and metabolism reports. 2023, 37: 101000Cited : 0Read More
- Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S Cubit, Judith S Miller, V Reid Sutton, Dwight Koeberl, Forbes D Porter. Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. Molecular genetics and metabolism reports. 2023, 37: 101001Cited : 0Read More
