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Galactosemia is an autosomal recessive inherited disease of galactose metabolism . In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy ...
Classic galactosemia is a rare inborn error of metabolism that affects the metabolism of galactose, a sugar derived from milk and derivates. Classic galactosemia is caused by variants of the GALT ...
Serum markers of bone turnover in children and adolescents with classic galactosemia Purpose: Classic galactosemia is an inherited metabolic disease resulting from galactose-1-phosphate ...
Classic galactosemia (McKusic 230400) is an inborn error et al. 1990; Schweitzer et al. 1993; Panis et al. 2004; Potter of galactose metabolism caused by a deficiency of the et al. 2008; Schadewaldt et al ...
Continuing the high standards of the Academic Press Advances series, this volume presents reviews on: "Inherited Metabolic Disorders," " Galactosemia ," "The Malabsorption Syndrome," "Peptides ...
heart valve development and bone marrow dysfunction in the absence of classic galactosemia manifestations.The compound heterozygous p.R51W/p.G237D of GALE is pathogenic.Abnormal N-glycosylation may ...
. Boards. $2.95. of bone Of ref- volume reviews on: "Inherited Margaret p. point remodeling. 184 presents Brown 34 Beacon Boston Little, & Co., St, 6, erences in the 34 are Metabolic bibliography ...
Classical galactosemia (CG) is an inborn error of galactose metabolism . Evidence‐based guidelines for the treatment and follow‐up of CG are currently lacking, and treatment and follow‐up have been ...
Of ref- volume reviews on: "Inherited Margaret p. point remodeling. 184 presents Brown 34 Beacon Boston Little, & Co., St, 6, erences in the 34 are Metabolic bibliography, by Disorders," " Galactosemia ...
. of bone Of ref- volume reviews on: "Inherited Margaret p. point remodeling. 184 presents Brown 34 Beacon Boston Little, & Co., St, 6, erences in the 34 are Metabolic bibliography, by Disorders ...
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