Results 51 to 60 of about 9,849 (231)

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease

Pediatrics and Neonatology, 2018
Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are
Bingjuan Han, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao   +4 more
doaj   +1 more source

Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease [PDF]

, 2019
We present a one-year-old girl with maple syrup urine disease with dermatitis secondary to the restriction of amino acids as part of the treatment.
Campuzano-García, Andrés Eduardo, Castanedo-Cázares, Juan Pablo   +1 more
core  

Serum Metabolomic Profiling of Piglets Infected with Virulent Classical Swine Fever Virus [PDF]

, 2017
Citation: Gong, W. J., Jia, J. J., Zhang, B. K., Mi, S. J., Zhang, L., Xie, X. M., . . . Tu, C. C. (2017). Serum Metabolomic Profiling of Piglets Infected with Virulent Classical Swine Fever Virus. Frontiers in Microbiology, 8, 14. doi:10.3389/fmicb.2017.
Bikai Zhang, Changchun Tu, Changchun Tu, Huancheng Guo, Jishu Shi, Junjie Jia, Li Zhang, Shijiang Mi, Wenjie Gong, Wenjie Gong, Xiaoming Xie   +10 more
core   +2 more sources

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Maple Syrup Urine Disease in a Central Indiana Hereford Herd

Case Reports in Veterinary Medicine, 2015
Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing.
Mark E. Robarge, Jonathan E. Beever, Stephen D. Lenz, Christopher J. Lynch, William L. Wigle   +4 more
doaj   +1 more source

Depletion of Branched-Chain Aminotransferase 2 (BCAT2) Enzyme Impairs Myoblast 3 Survival and Myotube Formation [PDF]

, 2019
Much is known about the positive effects of branched-chain amino acids (BCAA) in regulating muscle protein metabolism. Comparatively much less is known about the effects of these amino acids and their metabolites in regulating myotube formation.
ADEGOKE, OLASUNKANMI, Dhanani, Zameer N., Mann, Gagandeep   +2 more
core  

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

The role of fibroblast growth factors in cell and cancer metabolism

FEBS Letters, Volume 600, Issue 2, Page 140-163, January 2026.
Fibroblast growth factor (FGF) signaling regulates crucial signaling cascades that promote cell proliferation, survival, and metabolism. Therefore, FGFs and their receptors are often dysregulated in human diseases, including cancer, to sustain proliferation and rewire metabolism.
Jessica Price, Chiara Francavilla
wiley   +1 more source

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

Maple syrup urine disease in Brazil: a panorama of the last two decades

Jornal de Pediatria (Versão em Português), 2015
Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza   +8 more
doaj   +5 more sources