Results 111 to 120 of about 2,974 (143)

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

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

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

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

[Maple syrup urine disease].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1970
openaire   +1 more source

Maple syrup urine disease

, 2015
openaire   +1 more source

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Maple Syrup Urine Disease

American Journal of Diseases of Children, 1963
More than 20 instances of maple syrup urine disease (MSUD) have been described since 1954. Most were infants, who manifested in the first month of life a maple syrup odor in their urine and a clinical pattern of fits, episodic rigidity, lethargy, and poor suck. When measured, their blood and urine levels were found to be elevated for the branched-chain
N C, WOODY, C D, HANCOCK
  +6 more sources