Results 71 to 80 of about 8,782 (207)

Maple syrup urine disease: mechanisms and management

The Application of Clinical Genetics, 2017
Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS   +7 more
doaj  

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Reducing the effects of intracellular accumulation of thermolabile collagen II mutants by increasing their thermostability in cell culture conditions. [PDF]

, 2010
Mutations in collagen II are associated with spondyloepiphyseal dysplasia, a group of heritable diseases whose common features include aberrations of skeletal growth.
Fertala, Andrzej, Gawron, Katarzyna, Jensen, Deborah A., Steplewski, Andrzej   +3 more
core   +2 more sources

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease

Case Reports in Dermatological Medicine, 2017
Introduction. Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency ...
Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho   +4 more
doaj   +1 more source

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +1 more source

EBV‐Negative Burkitt Lymphoma Following Pediatric Liver Transplantation in a Child With Maple Syrup Urine Disease

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Maple Syrup Urine Disease (MSUD) is a genetic metabolic disorder requiring dietary protein restriction. Liver transplantation corrects the metabolic defect but carries a risk of post‐transplant lymphoproliferative disorder (PTLD), often associated with Epstein–Barr virus (EBV) infection.
Atsuki Naoe, Eri Ogawa, Makito Tanaka, Yoko Nakajima, Toshihiro Yasui, Shunsuke Watanabe, Tomonori Tsuchiya, Mikihiro Inoue, Nikhat Kaura   +8 more
wiley   +1 more source

A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At‐Home Monitoring of Metabolic Disorders

Journal of Analytical Methods in Chemistry, Volume 2026, Issue 1, 2026.
Inborn errors of metabolism such as phenylketonuria (PKU) and maple syrup urine disease (MSUD) can cause severe developmental problems. Both conditions can lead to harmful levels of keto acids in biofluids—phenylpyruvic acid (PPA) in PKU and branched‐chain α‐keto acids in MSUD. Monitoring urinary keto acids helps track dietary adherence and reduces the
Dipanjan Bhattacharyya, Abby Kropielnicki, Brian L. Lee, Yeganeh Khaniani, Marcia A. LeVatte, David S. Wishart, Larisa Lvova   +6 more
wiley   +1 more source

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH [PDF]

, 2010
Background Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of ...
Bassem A Bejjani, Beth S Torchia, Blake C Ballif, Lisa G Shaffer, Nicholas J Neill   +4 more
core   +3 more sources

Toxicological Assessment of D‐Allulose From a Novel One‐Step Fermentation Process Using Genetically Modified Escherichia coli: A 90‐Day Dietary Toxicity Study in Rats

Journal of Toxicology, Volume 2026, Issue 1, 2026.
D‐Allulose is a rare monosaccharide structurally similar to D‐fructose, characterized by low caloric content and relatively high sweetness. This study aimed to conduct a 90‐day oral toxicity test to systemically evaluate the potential toxicological effects of D‐allulose produced via a novel one‐step fermentation process using genetically engineered ...
Zinan Li, Yanmin Nie, Hongju Du, Wenjing Zhang, Shan Zheng, Wenshu Cong, Ying Feng, Guojun Li, Haiming Jing, Junyu Ning, Shan Gao, Phuping sucharitakul   +11 more
wiley   +1 more source