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maple syrup urine disease/edema
Veza se sprema u međuspremnik
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Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment.
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A 7-day-old girl had an elevated leucine level on newborn screen drawn at 2 days of age and was suspected of having maple syrup urine disease (MSUD). When reported, the patient was immediately admitted to hospital, and started on a modified diet involving high calories with reduced branched chain
Cerebral edema causing death in children with maple syrup urine disease.
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Four children with the classic form of maple syrup urine disease (MSUD) died of cerebral edema during an intercurrent infection that caused severe dehydration and acidosis. The diagnosis of MSUD had been established during the neonatal period in all four patients, on day 1 of life in three of them.
Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema.
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BACKGROUND
The acute phase of the neonatal classical form of maple syrup urine disease (MSUD) is usually associated with generalized brain edema.
RESULTS
The authors present the case of a newborn infant in the acute stage of the classical form of MSUD in whom a remarkable decrease in the water
Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease.
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Cerebral edema in maple syrup urine disease.
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Intramyelinic edema in maple syrup urine disease.
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Cerebral edema in maple syrup urine disease.
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Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings.
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We present conventional magnetic resonance (MR) imaging with diffusion-weighted and diffusion-tensor imaging findings in a 10-day-old neonate with maple syrup urine disease (MSUD). On conventional MR imaging, signal abnormalities were noted in the affected white matter of cerebellum, dorsal
[Maple syrup urine disease of neonates: report of two cases and review of literature].
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OBJECTIVE
To analyze and summarize clinical manifestation of maple syrup urine disease (MSUD) of neonates.
METHODS
Data of two cases with neonatal MSUD and the reports of 15 cases seen in the past 15 years in China were reviewed and analyzed.
RESULTS
There was an increasing number of reports of
Cranial computed tomography in a patient with a variant form of maple syrup urine disease.
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A male infant, who was suspected to be a case of variant form of maple syrup urine disease (MSUD) has been given dietary treatment since the age of 9 months. Prior to the treatment, computed tomography (CT) showed abnormally high lucidity in the cerebral white matter area with the marked narrowness
Acrodermatitis enteropathica-like eruption during treatment of maple syrup urine disease: report of one case.
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We describe a Chinese infant with maple syrup urine disease (MSUD) who had acrodermatitis enteropathica-like skin manifestations, edema, anemia, and diarrhea due to inadequate intake of branched-chain amino acids (BCAAs). A BCAA supplementation resulted in resolution of the eruption. This
Abnormal dendritic development in maple syrup urine disease.
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The neuropathology of a 6-year-old boy with maple syrup urine disease revealed spongy appearance of the white matter and marked edema of the brainstem. Golgi studies demonstrated aberrant orientation of neurons together with abnormalities of dendrites and dendritic spines. Similar changes were
Apoptotic signaling pathways induced by acute administration of branched-chain amino acids in an animal model of maple syrup urine disease.
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Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of the branched-chain α-keto acid dehydrogenase complex activity. This blockage leads to accumulation of the branched-chain amino acids leucine, isoleucine and valine, as well as their corresponding α-keto acids
Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease.
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Individuals with maple syrup urine disease (MSUD) have an inherited metabolic disorder resulting in a deficiency in the branched-chain keto-acid dehydrogenase complex. As a result, these individuals have elevated concentrations of the branched-chain amino acids valine, isoluecine, allo-isoleucine,
Posttraumatic dental implant placement in a patient with maple syrup urine disease.
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Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting from a defect in the oxidation of the branched-chain amino acids leucine, isoleucine, and valine. Patients present in early infancy with brain edema; delay in diagnosis and treatment is common and associated with residual
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