Results 131 to 140 of about 1,106 (149)
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Heritability of Long‐Term Complications in Classic Galactosemia
Journal of Inherited Metabolic DiseaseABSTRACT As a group, patients with classic galactosemia (CG) demonstrate a high prevalence of long‐term complications despite early detection and life‐long dietary restriction of galactose, which is the current standard of care. Individual outcomes, however, vary widely.
Olivia S. Garrett +20 more
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Skeletal health in adult patients with classic galactosemia
Osteoporosis International, 2012This study evaluated bone health in adults with galactosemia. Associations between bone mineral density (BMD) and nutritional and biochemical variables were explored. Calcium level predicted hip and spine BMD, and gonadotropin levels were inversely associated with spinal BMD in women.
Batey, L. A. +9 more
openaire +2 more sources
[Diet treatment of classical galactosemia].
Orvosi hetilap, 2017Classical 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 diet.
Erika, Kiss +2 more
openaire +1 more source
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
Molecular Genetics and Metabolism, 2022Judith Fridovich-Keil
exaly
Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone
Fertility and Sterility, 2009M Estela Rubio-Gozalbo +2 more
exaly
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Fertility and Sterility, 2017M Estela Rubio-Gozalbo +2 more
exaly
Molecular basis and clinical presentation of classic galactosemia in a Croatian population
Journal of Pediatric Endocrinology and Metabolism, 2018Isabel Rivera +2 more
exaly