Results 1 to 10 of about 5,966 (238)
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice [PDF]
Nature Communications, 2022 Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau +15 more
doaj +3 more sources
Maple syrup urine disease decompensation misdiagnosed as a psychotic event [PDF]
Molecular Genetics and Metabolism Reports, 2022 Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine.
Tomoyasu Higashimoto +4 more
doaj +3 more sources
Pregnancy in an adolescent with maple syrup urine disease: Case report [PDF]
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine.
Michelle E. Abadingo +3 more
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 +3 more sources
Outcome of maple syrup urine disease. [PDF]
Archives of Disease in Childhood, 1982 The outcome of 12 children with classical maple syrup urine disease is reviewed. All patients presented in the neonatal period at ages varying from 5 to 21 (median 8) days. The time taken to make the diagnosis ranged from 1 day to longer than 9 months (median 7 days).
E. R. Naughten +3 more
openalex +4 more sources
Stem Cell Research, 2021 Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Bin Wang +4 more
doaj +2 more sources
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination [PDF]
JCRPE, 2023 Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage.
Azza AL Shidhani +7 more
doaj +2 more sources
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
doaj +2 more sources
Gene Preference in Maple Syrup Urine Disease [PDF]
The American Journal of Human Genetics, 2001 Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often leads to neonatal death. Newborn-screening programs, coupled with the use of protein-modified diets, have minimized the severity of this phenotype and allowed affected individuals to develop into productive adults.
Mary M. Nellis, Dean J. Danner
openalex +5 more sources
Family with intermittent maple syrup urine disease [PDF]
Archives of Disease in Childhood, 1973 A family is described in which the 3 children presented with episodes of severe metabolic acidosis secondary to minor infections. 2 of them died, and 1 of these was severely retarded. The sole surviving child is 6 years old and is normal with respect to physical and mental development.
H B Valman +4 more
openalex +5 more sources