Results 141 to 150 of about 11,541 (279)
Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures. [PDF]
Cureus, 2023 K K H +4 more
europepmc +1 more source
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Reply to: “Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease” [PDF]
, 2006 K. Strauss +2 more
openalex +1 more source
Perioperative management of a patient with maple syrup urine disease [PDF]
, 2008 Diego Fuentes-García +1 more
openalex +1 more source
Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn [PDF]
, 2009 José Roberto Lopes Ferraz-Filho +4 more
openalex +1 more source
Diagnosis of an intermediate case of maple syrup urine disease: A case report. [PDF]
World J Clin Cases, 2023 Lin YT +7 more
europepmc +1 more source
Teaching Neuro Images : MRI in maple syrup urine disease [PDF]
, 2010 Parayil Sankaran Bindu +2 more
openalex +1 more source
Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology. [PDF]
Int J Mol Sci, 2023 Kreiser T +5 more
europepmc +1 more source
Stem Cell Research, 2019 The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang +8 more
doaj