Results 231 to 240 of about 11,541 (279)
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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
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Liver transplantation, 2019
Liver transplantation (LT) has been shown to be a feasible treatment in patients with severe forms of maple syrup urine disease (MSUD). Because of a sufficient extrahepatic enzyme activity in non‐MSUD individuals, the organ of MSUD patients can be used ...
U. Herden +11 more
semanticscholar +1 more source
Liver transplantation (LT) has been shown to be a feasible treatment in patients with severe forms of maple syrup urine disease (MSUD). Because of a sufficient extrahepatic enzyme activity in non‐MSUD individuals, the organ of MSUD patients can be used ...
U. Herden +11 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
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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
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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
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
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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
THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE
The Lancet, 1971Abstract The rare inborn errors of metabolism are likely to be genetically heterogeneous. A new form of maple-syrup-urine disease in which the hyperaminoacidaemia is completely corrected by thiamine hydrochloride (10 mg. per day) without recourse to dietary restriction, illustrates this hypothesis.
CarolL. Clow +3 more
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