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galactosemias/dijareja
Veza se sprema u međuspremnik
9 rezultati
[Toxic diarrhea in a heterozygote with galactosemia complicated by chronic subdural hematoma].
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Inherited factor V deficient neonate with galactosaemia.
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OBJECTIVE
Reporting a case of inherited factor V deficiency and galactosemia.
METHODS
A neonate was admitted with hematoma, jaundice, splenomegaly, diarrhea, anemia, abdominal ascites and bilateral cataracts that diagnosis of galactosaemia and factor V deficiency was
Galactosemia presenting as recurrent sepsis.
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Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic
Galactosemia: clinical features, diagnosis and management. A case report.
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The case report and discussion presented here were prepared in response to legislation in Louisiana which requires that the Dept of Health and Hospitals establish a program to inform physicians and hospitals of the current medical standards for the diagnosis, clinical management, and recognition of
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.
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Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and
[Diet treatment of classical galactosemia].
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Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the
Mutational analysis of the GALT gene in Filipino patients.
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Classic galactosemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. This study describes the results of the GALT gene analysis of four unrelated Filipino patients with Classic Galactosemia. DNA extracted from dried blood spots and
Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant.
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We present a rare case of galactosemia identified by a positive screening test. A 20-day-old female infant was admitted with jaundice and bloody stained diarrhea. There was no history of fever, convulsions, abdominal distention, or bleeding from other sites. Laboratory findings indicated elevated
Digestive side-effects with teriflunomide: Thoughts on lactose.
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BACKGROUND
Teriflunomide, a novel, orally bioavailable, active metabolite of leflunomide, has anti-inflammatory activity. It is prescribed as a first-line treatment for relapsing-remitting multiple sclerosis (RRMS) at a dose of one 14mg tablet per day. Common adverse reactions observed in
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