Results 211 to 220 of about 26,062 (264)
Some of the next articles are maybe not open access.
The Therapy of Maple Syrup Urine Disease
Archives of Pediatrics & Adolescent Medicine, 1967BOTH THE clinical picture and the metabolic abnormality in maple urine disease pose special problems in its management. The rapid progression of symptoms (from feeding problems and apathy to the onset of central nervous system signs with periods of hypertonicity alternating with hypotonia, loss of Moro's reflex, difficulties with respiration to ...
openaire +3 more sources
Mild variant of maple syrup urine disease
European Journal of Pediatrics, 1976Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quantity of keto acids was found in urine with a ...
Atsusi Seki +5 more
openaire +3 more sources
Scoliosis and Maple Syrup Urine Disease
Journal of Pediatric Orthopaedics, 1984The intermediate variant of maple syrup urine disease produced frequent infections and significant mental retardation in a young female patient recently treated for scoliosis. There were no problems with infection, wound healing, or fusion with a regimen consisting of a low protein diet, perioperative antibiotics, good hydration, and early ...
openaire +3 more sources
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Clinica chimica acta; international journal of clinical chemistry, 2023Ting Chen +10 more
semanticscholar +1 more source
CT and MRI in maple syrup urine disease
Neurology, 1988We describe a patient with a variant form of maple syrup urine disease who had unusual CT and MRI features that raised the suspicion of a metabolic disease. There were low density and abnormal signal in the white matter and pallida. Sponginess in these areas is the likely explanation for these findings.
Nardo Nardocci +2 more
openaire +2 more sources
Transplantation, 2019
Background. Data describing the technical aspects of living donor (LD) domino liver transplantation (DLT) in maple syrup urine disease (MSUD) are limited. The largest published series includes only 3 cases.
Karina M. O. Roda +12 more
semanticscholar +1 more source
Background. Data describing the technical aspects of living donor (LD) domino liver transplantation (DLT) in maple syrup urine disease (MSUD) are limited. The largest published series includes only 3 cases.
Karina M. O. Roda +12 more
semanticscholar +1 more source
Maple Syrup Urine Disease in an Infant with Microgyria
Developmental Medicine & Child Neurology, 1967SUMMARYA female child aged 10 months at death had shown malformations and neurological abnormality from birth. She later became severely epileptic and developed opisthotonos. While in hospital the odour of maple syrup was detected in the urine and the presence of valine, leucine and isoleucine was demonstrated by chromatography.
R. M. Norman, J. K. Martin
openaire +3 more sources
Maple syrup urine disease 1954 to 1993
Journal of Inherited Metabolic Disease, 1993SummaryThe clinical, molecular genetic and other biochemical aspects of branched‐chain α‐ketoacid dehydrogenase defects are reviewed.
D. J. Danner, Frank Peinemann
openaire +3 more sources