Results 11 to 20 of about 5,075,107 (157)
PERAWATAN GIGI PADA ANAK DENGAN MAPLE SYRUP URINE DISEASE (LAPORAN KASUS) [PDF]
Journal of Dentistry Indonesia, 2015 Maple Syrup Urine Disease is a disparity of leusin decarboxilation, and isoleusin of valin defect that is synthesized with complex enzyme systems. It is a rare disease and represents disparity.
Tri Fajari, Ismu Suharsono Suwelo
doaj +3 more sources
Menkes Maple Syrup Urine Disease: Treatment
Pediatric Neurology Briefs, 1991 Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
doaj +2 more sources
Maple Syrup Urine Disease and Cerebral Edema
Pediatric Neurology Briefs, 1991 Cerebral edema causing death in four children with maple syrup urine disease (MSUD) is reported from St.
J Gordon Millichap
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Leucinosis, or maple syrup urine disease (lecture and a clinical case)
Alʹmanah Kliničeskoj Mediciny, 2020 Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex.
Ju. A. Tsareva +3 more
doaj +2 more sources
Maple syrup urine disease: mechanisms and management
The Application of Clinical Genetics, 2017 Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR +7 more
doaj +1 more source
Maple Syrup Urine Disease with Concomitant Congenital Adrenal Hyperplasia in a Setting of Consanguineous Marriage. [PDF]
Journal of Rawalpindi Medical College, 2018 Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Urine Disease (MSUD) and congential adrenal hyperplasia (CAH) are autosomal recessive diseases, with an increased risk of transmission amongst progeny of ...
Hafiz Armaghan Saeed et al.,
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Two novel mutations in the BCKDHB gene that cause maple syrup urine disease
Pediatrics and Neonatology, 2018 Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are
Bingjuan Han +4 more
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Maple Syrup Urine Disease in a Central Indiana Hereford Herd [PDF]
Case Reports in Veterinary Medicine, 2015 Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing.
Mark E. Robarge +4 more
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Molecular Genetics and Metabolism Reports, 2015 Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic ...
P.S. Atwal, C. Macmurdo, P.C. Grimm
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Functional connectivity changes in mouse models of maple syrup urine disease. [PDF]
Cereb CortexMaple syrup urine disease is a rare metabolic disorder that results in neurodevelopmental injury despite dietary therapy. While structural neuroimaging has shown a characteristic pattern of edema and white matter injury, no functional neuroimaging ...
Lavery S +6 more
europepmc +2 more sources