Diagnóstico molecular de la deficiencia de adhesión leucocitaria bovina en terneros holando, mediante qpcr-hrm [PDF]
, 2019 Entrenamiento en técnicas de diagnóstico molecular de enfermedades hereditarias, "Bovine Leucocite adhesion deficiency" (BLAD) bovinos en razas Holando y " Maple Syrup Urine Disease" (MSUD) en la raza Hereford.CONACYT - Consejo Nacional de Ciencia y ...
Castro Rojas, Liz Aurora
core
Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration [PDF]
, 1979 Investigation of a 15-year old boy with progressive optic atrophy and spinocerebellar degeneration revealed elevated plasma, cerebrospinal fluid, and urine glycine concentrations.
Berman, Peter H. +4 more
core +1 more source
Report of Pedigree Pattern of a Family with Two Members Affected with Maple Syrup Urine Disease
پزشکی بالینی ابن سینا, 1999 Present paper reports two cases of affected newborns with maple syrup urine disease (MSUD) in an Iranian rural family, and also explains the genetic counseling procedure.
Hamid Pour Jafari
doaj
Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Journal of Biochemical and Clinical Genetics, 2019 Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni +2 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.ABSTRACT Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex phenotype than other UCDs, with long‐term neurocognitive deficits.
Barbara Siri +15 more
wiley +1 more source
Treatment of maple syrup urine disease with high flow hemodialysis in a neonate
The Turkish Journal of Pediatrics, 2019 Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün +4 more
doaj +1 more source
Genetic and metabolic urgencies in the neonatal intensive care unit: maple syrup urine disease [PDF]
, 2015 La enfermedad de la orina con olor a jarabe de arce (EOJA) es un trastorno hereditario del metabolismo de aminoácidos ramificados causada por mutaciones en el complejo mitocondrial Deshidrogenasa de Cetoácidos de Cadena Ramificada (BCKDH).
Grupo de Nutrición, Genética y Metabolismo, +2 more
core +1 more source
The Molecular Basis of Maple Syrup Urine Disease [PDF]
Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC).
Jensen, Chloe
core +1 more source
Evaluation of readability and accuracy of information leaflets in general practice for patients with asthma [PDF]
, 1998 No description ...
Brown, Richard +3 more
core +2 more sources
Neuroradiological findings in maple syrup urine disease
Journal of Pediatric Neurosciences, 2013 Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and
Venkatraman Indiran +1 more
openaire +4 more sources