Results 151 to 160 of about 3,985 (198)

Molecular and Bio-informatics Analysis of BCKDHA, BCKDHB, DLD and DBT Gene Mutations in Azerbaijani Patients with Maple Syrup Urine Disease

Lala Huseynova, Aysel Rafig Hashimova, Shahla Rahid Eyvazova, H. Raya, Sevda Tariel Huseynova   +4 more
openalex   +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

Thinking beyond sepsis to unmask a metabolic mystery: a rare case of neonatal maple syrup urine disease

D K Raut, Sagar Yamnaji Walhekar, Arpita Misra, Rachna Singh   +3 more
openalex   +2 more sources

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

Expanding the Genetic Spectrum of PPM1K‐Related Maple Syrup Urine Disease: A Novel Mutation [PDF]

Mustafa Kılıç, Esra Sayar, Suzan İcil, Sevgi DOĞAN, Gizem Gökçe‐Altaş, Can Koşukçu, Abdüllatif Bakır, Abdullah Sezer   +7 more
openalex   +1 more source

[Maple syrup urine disease].

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

Some of the next articles are maybe not open access.

Related searches:

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
openaire   +3 more sources

Hypoglycemia in Maple Syrup Urine Disease

Archives of Pediatrics & Adolescent Medicine, 1967
HYPOGLYCEMIA associated with maple syrup urine disease has been observed by MacKenzie and Woolf, 1 Silberman, et al, 2 Lonsdale and Barber, 3 and Menkes (oral communication, 1966). Several investigators have speculated as to whether the mechanism resembles that of leucine sensitive hypoglycemia as originally described by Cochrane.
G N, Donnell, E, Lieberman, K N, Shaw, R, Koch   +3 more
openaire   +2 more sources

The treatment of maple syrup urine disease

The Journal of Pediatrics, 1969
Summary The early management of 3 infants with maple syrup urine disease is described with particular reference to variations in daily requirements for branched-chain amino acids. The use of a new dry base mix consisting of a dextrimaltose-corn oil-mineral mix, an iron-vitamin mix, and an amino acid mix as a formula base has facilitated earlier home ...
S I, Goodman, S, Pollak, B, Miles, D, O'Brien   +3 more
openaire   +2 more sources