Results 121 to 130 of about 5,966 (238)

Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology. [PDF]

Int J Mol Sci, 2023
Kreiser T, Sogolovsky-Bard I, Zaguri D, Shaham-Niv S, Laor Bar-Yosef D, Gazit E.   +5 more
europepmc   +1 more source

The Cost-Effectiveness of Expanding the Nhs Newborn Bloodspot Screening Programme To Include Homocystinuria (Hcu), Maple Syrup Urine Disease (Msud), Glutaric Aciduria Type 1 (Ga1), Isovaleric Acidaemia (Iva), and Long-Chain Hydroxyacyl-Coa Dehydrogenase Deficiency (Lchadd) [PDF]

, 2014
Alice Bessey, J. Chilcott, Abdullah Pandor, Suzy Paisley   +3 more
openalex   +1 more source

Maple syrup urine disease: new insights from a zebrafish model

Disease Models & Mechanisms, 2012
Nathan B. Roberts
doaj   +1 more source

Symptoms, Treatment, Complications as well as Prognosis of Classic Maple Syrup Urine Disease (MSUD), Metabolic Instability, Neurological Complications and Treatment Of Intermediate MSUD, Case Studies as well as Success Stories of Thiamine Responsive MSUD [PDF]

, 2023
C Vinayasree., Mohan Naidu. K, E Muralinath., Amrutham Sandeep, Venkat Naveen. A, Mamatha Guruprasad, Sravani Pragna. K   +6 more
openalex   +1 more source

Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease. [PDF]

JIMD Rep, 2023
Tangeraas T, Kristensen E, Mørkrid L, Elind E, Bliksrud YT, Eide L.   +5 more
europepmc   +1 more source

Erratum to: Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report [PDF]

, 2015
Jessie Aw-Zoretic, Nitin R. Wadhwani, Rishi Lulla, Maura E. Ryan   +3 more
openalex   +1 more source

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil [PDF]

, 2023
Ester Mara Rodrigues Freire, Raffaela Neves Mont' Alverne, Mariana de Souza Rocha Teixeira, Beatriz Esmeraldo Teixeira, Aline Campos Fontenele Rodrigues, Rôsicler Pereira de Gois, Tamiris Carneiro Mariano, André Pessoa, Erlane Marques Ribeiro   +8 more
openalex   +1 more source

Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease. [PDF]

Healthcare (Basel), 2023
Alrige M, Banjar H, Shuaib T, Ahmed A, Gharbawi R.   +4 more
europepmc   +1 more source

Altered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease. [PDF]

Commun Med (Lond)
Roberti D, Grier AL, Reisz JA, Vallefuoco F, Key A, Bevers S, Dzieciatkowska M, Nemkov T, Contieri M, Zanfardino A, Norris PJ, Busch MP, Kauffman V, Morton HD, Earley EJ, Page GP, Marzuillo P, D'Alessandro A.   +17 more
europepmc   +1 more source

Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease

, 2005
Hiroshi Mitsubuchi, Misao Ōwada, Fumio Endo   +2 more
openalex   +1 more source