Results 111 to 120 of about 8,782 (207)

Considerations for the Diagnosis and Management of Sulphite Sensitivity [PDF]

open access: yes, 2012
The review article by Vally and Misso (1) published in the current edition of this journal outlines the broad range of signs and symptoms associated with sulphite sensitivity.
Bold, Justine
core   +1 more source

Maple Syrup Urine Disease [PDF]

open access: yesPediatrics & Therapeutics, 2016
Jorge Alvarez, Gerardo Rivera Silva
openaire   +1 more source

Maple syrup urine disease: new insights from a zebrafish model

open access: yesDisease Models & Mechanisms, 2012
Nathan B. Roberts
doaj   +1 more source

Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures. [PDF]

open access: yesCureus, 2023
K K H   +4 more
europepmc   +1 more source

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease. [PDF]

open access: yesEur J Pediatr
Oral-Cebeci S   +6 more
europepmc   +1 more source

The Molecular Basis of Maple Syrup Urine Disease [PDF]

open access: yes
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

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]

open access: yesOrphanet J Rare Dis
Sulaiman RA   +7 more
europepmc   +1 more source

Diagnosis of an intermediate case of maple syrup urine disease: A case report. [PDF]

open access: yesWorld J Clin Cases, 2023
Lin YT   +7 more
europepmc   +1 more source

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