Results 151 to 160 of about 11,541 (279)

Two new mutations in the human E1β subunit of branched chain α-ketoacid dehydrogenase associated with maple syrup urine disease

, 1997
Beth B. McConnell, Brett Burkholder, Dean J. Danner   +2 more
openalex   +1 more source

Comparison of The Peritoneal Dialysis and Continuous Veno-Venous Hemodiafiltration in 16 Neonates With Maple Syrup Urine Disease [PDF]

, 2021
İbrahim Değer, Muhittin Çelik, İbrahim Taş, Serhat Samancı   +3 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

Branched Chain Amino Acids Induce Apoptosis in Neural Cells without Mitochondrial Membrane Depolarization or CytochromecRelease: Implications for Neurological Impairment Associated with Maple Syrup Urine Disease

, 2000
Philippe Jouvet, Pierre Rustin, Deanna L. Taylor, Jennifer M. Pocock, Ursula Felderhoff‐Mueser, Nicholas D. Mazarakis, Catherine Sarraf, Umesh Joashi, Mary Kozma, Kirsty Greenwood, A. David Edwards, Huseyin Mehmet   +11 more
openalex   +2 more sources

Successful domino liver transplantation in maple syrup urine disease using a related living donor [PDF]

, 2014
Flávia Heinz Feier, Irene Kazue Miura, Eduardo A. Fonseca, Gilda Porta, Renata Pugliese, Adriana Porta, Ida Vanessa Döederlein Schwartz, Ana Vitória Barban Margutti, José Simon Camelo, Seiji Yamaguchi, Adriana Taveira, Helry L. Cândido, Marcel R. Benavides, Vera B. Danesi, Teresa Guimarães, Mário Kondo, Paulo Chapchap, João Seda Neto   +17 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

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

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

The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2018
BACKGROUND AND OBJECTIVE: Maple syrup urine disease is a rare inborn metabolic inherited disorder caused by deficiency of branched chain α-keto acid dehydrogenase complex and leading to accumulation of branched chain amino acids in body fluid.
N Gorjizadeh, O Jazayeri, S Najavand, M Alijanpour   +3 more
doaj  

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