Results 161 to 170 of about 5,966 (238)

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease. [PDF]

Int J Mol Sci
Alotaibi AZ, AlMalki RH, Al Mogren M, Sebaa R, Alanazi M, Jacob M, Alodaib A, Alfares A, Abdel Rahman AM.   +8 more
europepmc   +1 more source

A 1-year-old Female with Maple Syrup Urine Disease Presenting with Acrodermatitis-Enteropathica-like Lesions

, 2018
Rona Maria R. Abad, Johanna Pauline H. Lazo-Dizon   +1 more
openalex   +2 more sources

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review. [PDF]

BMC Oral Health
Hassona Y, Alqaisi D, Flaifl Y, Alkilani A.   +3 more
europepmc   +1 more source

Acrodermatitis dysmetabolica with concomitant acquired acrodermatitis enteropathica in a patient with maple syrup urine disease. [PDF]

JAAD Case Rep
Santaliz-Ruiz LE, Marrero-Pérez AC, Sánchez-Pont J, Nevárez-Pomales O.   +3 more
europepmc   +1 more source

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis. [PDF]

Cureus
Miragaia P, Grangeia A, Rodrigues E, Sousa R, Ribeiro A.   +4 more
europepmc   +1 more source

A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population. [PDF]

Mol Biol Res Commun
Rezaie N, Ghazanfari SS, Khosravi T, Vaghefi F, Oladnabi M.   +4 more
europepmc   +1 more source

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype. [PDF]

JIMD Rep
Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, Schwoerer JS.   +6 more
europepmc   +1 more source

Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

Egyptian Journal of Medical Human Genetics, 2018
Alyaa A. Kotby, Marwa M. Al-Fahham, Heba Salah A. Elabd, Osama K. Zaki   +3 more
doaj   +1 more source

Liquid chromatography-mass spectrometric method for the simultaneous analysis of branched-chain amino acids and their ketoacids from dried blood spot as secondary analytes for the detection of maple syrup urine disease. [PDF]

J Mass Spectrom Adv Clin Lab
Raveendran A, Gupta A, Lewis LE, Prabhu K, Moorkoth S.   +4 more
europepmc   +1 more source

Assembly of branched chain amino acid (BCAA) to toxic fibrils may be related to pathogenesis of Maple syrup urine disease (MSUD)

Chandra P Kanth, Monisha Patel, Raj Dave, Ankur Singh, Aayushi Joshi, Manoj Kumar Pandey, Dhiraj Bhatia, Nidhi Gour   +7 more
openalex   +1 more source