Results 141 to 150 of about 26,062 (264)

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

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

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

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

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 Luiz Santos Pessoa, Erlane Marques Ribeiro   +8 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  

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

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

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review. [PDF]

BMC Med Genomics
Younes S, Elkahlout R, Kilani H, Okashah S, Sharshani HA, Rezoug Z, Zayed H, Al-Dewik N.   +7 more
europepmc   +1 more source