galactosemias/carbohydrate

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Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.

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Ielogoties Reģistrēties

An abnormality in galactosylation of complex carbohydrates may be important in the pathogenesis of the long-term complications of classic (galactose-1-phosphate uridyltransferase-deficient) galactosemia. The ability of nine galactosemic fibroblast preparations to be galactosylated with a purified

Carbohydrate-deficient transferrin in galactosaemia.

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Ielogoties Reģistrēties

Carbohydrate-deficient isoforms of transferrin (CDT) were examined in Guthrie cards from patients with galactosaemia before and during dietary treatment for up to 9 y. In untreated patients the CDT values were elevated due to abnormal asialo- and/or disialotransferrin. During treatment, the CDT

Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.

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Ielogoties Reģistrēties

Abnormalities in protein glycosylation are reported in fructosemia (HFI) and galactosemia, although, particularly in HFI, the published data are limited to single cases. The purpose was to investigate the usefulness of the carbohydrate-deficient transferrin (CDT) profile for identification and

[GALACTOSEMIA-A CONGENITAL DEFECT OF CARBOHYDRATE METABOLISM].

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[A case of congenital galactosemia. Study of carbohydrate metabolism].

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Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

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OBJECTIVE Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it

Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis.

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Metallic catalytic nanowires such as nickel and copper nanowires (NWs) for electrochemical detection of carbohydrates involved in metabolic rare diseases are proposed. NWs were electrodeposited using a polycarbonate membrane template, which was cut with the desired shape, stuck in double-sided

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.

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Ielogoties Reģistrēties

Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet.

Galactose content of baby food meats: considerations for infants with galactosemia.

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Ielogoties Reģistrēties

Treatment of galactosemia requires a galactose-restricted diet. Although meats are not traditionally thought of as a dietary carbohydrate source, small amounts may be present in free form and/or bound to proteins or lipids. The purpose of this study was to determine the free and bound galactose

Galactosemia: when is it a newborn screening emergency?

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Ielogoties Reģistrēties

Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

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Ielogoties Reģistrēties

GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally. Lactose consumption in the

[Diet treatment of classical galactosemia].

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Ielogoties Reģistrēties

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

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.

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Ielogoties Reģistrēties

The ability of mice deficient in galactose-1-phosphate uridyltransferase (GALT) to metabolize galactose was determined in animals weaned to a mouse chow diet for a 4-wk period. When given [14C]galactose intraperitoneally, these animals slowly oxidized the sugar, excreting only 5.5% of the dose as

Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism.

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Ielogoties Reģistrēties

OBJECTIVE To determine the usefulness of abdominal sonography in inherited diseases of carbohydrate metabolism. METHODS Thirty patients (age range, 4 months to 27 years) with glycogen storage diseases, galactosemia, disorders of fructose metabolism were studied with sonography. Echogenicity of the

The carbohydrate-deficient glycoprotein syndromes: an overview.

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Ielogoties Reģistrēties

The carbohydrate-deficient glycoprotein (CDG) syndromes are a newly recognized family of diseases with autosomal recessive inheritance. The basic defects are probably in the glycosylation pathway (endoplasmic reticulum, Golgi apparatus or post-Golgi). In the present state of our knowledge the

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