Results 61 to 70 of about 11,541 (279)

Branched-chain amino acids influence the immune properties of microglial cells and their responsiveness to pro-inflammatory signals [PDF]

, 2013
The branched-chain amino acids (BCAAs) valine, leucine and isoleucine are essential amino acids involved in several important brain functions. Although commonly used as nutritional supplements, excessive intake of BCAAs might favour the establishment of ...
Ajmone-Cat, Maria Antonietta, De Nuccio, Chiara, De Simone, Roberta, Mingarelli, Cecilia, Minghetti, Luisa, Visentin, Sergio, Vissicchio, Federica   +6 more
core   +1 more source

Maple syrup urine disease: the first case in Bali [PDF]

, 2018
Background: Maple syrup urine disease (MSUD) is a rare genetic disease of metabolic disorder inherited as an autosomal recessive trait. The disease is caused by branched-chain alpha-keto acid dehydrogenase (BCKD) deficiency.
I Gusti Lanang Sidiartha, Irene Widodo, Putu Andina Pramitasari   +2 more
core   +2 more sources

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study

JIMD Reports, 2020
Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression.
Shailly Jain‐Ghai, A. Joffe, Gwen Bond, K. Siriwardena, A. Chan, J. Yap, Morteza Hajihosseini, I. Dinu, Bryan V. Acton, C. Robertson   +9 more
semanticscholar   +1 more source

Age‐specific reference intervals for plasma amino acids and their associations with nutrient intake in the Chinese pediatric population

iMeta, Volume 4, Issue 3, June 2025.
A total of 2901 healthy Chinese children aged 0–12 years were enrolled in the reference group; 102 confirmed Phenylketonuria cases were included as validation individuals. Establishing the age‐specific reference intervals of 42 plasma amino acids in Chinese pediatric populations. Profiling dynamic interactions between multiple nutrient intake and amino
Yang Wen, Qing Liu, Hongbo Zeng, Lina Lyu, Xuezhen He, Xin Zhang, Wentao Lyu, Weijun Chen, Yingping Xiao   +8 more
wiley   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT The current cornerstone of the management of many small‐molecule inborn errors of metabolism (IEMs) is a combination of dietary therapy and medication, with evidence for improved clinical outcomes. However, the burden imposed on patients and families is substantial.
A. Selvanathan, S. Nazir, K. van Wyk, E. Simpson, V. Holmes, R. Hutton, F. White, B. C. Schwahn   +7 more
wiley   +1 more source

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

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

Jornal de Pediatria, 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

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