Results 121 to 130 of about 870 (139)

Consensus on the guidelines for the dietary management of classical galactosemia

Clinical Nutrition ESPEN, 2015
Worldwide there is scientific discussion about the dietary management of galactosemia. The dietary management is very different in several countries among Europe, the US and Canada. The main points of discussion are related to the fact that i) despite a strict diet some patients still have poor outcomes; ii) there is lack of scientific knowledge about ...
Kristel Vande Kerckhove, Marianne Diels, Sigrid Vanhaesebrouck, Karin Luyten, Nancy Pyck, An De Meyer, Marleen Van Driessche, Martine Robert, Karen Corthouts, Ariane Caris, Emilie Duchateau, Martine Dassy, Genevieve Bihet   +12 more
openaire   +2 more sources

Heritability of Long‐Term Complications in Classic Galactosemia

Journal of Inherited Metabolic Disease
ABSTRACT 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, Nicole H. Smith, David J. Cutler, Yuhan Wu, Ina Knerr, Doireann Pereira, M. Estela Rubio‐Gozalbo, E. Naomi Vos, Megan Harrison, Kara Pappas, David Coman, Karolina M. Stepien, Daniela Karall, Julian Margreitter, Sabine Scholl‐Bürgi, Madison A. Heisler, Christina Lam, Maria R. Mills, Emilia Bélanger, Andrea C. Yu, Judith L. Fridovich‐Keil   +20 more
openaire   +2 more sources

Skeletal health in adult patients with classic galactosemia

Osteoporosis International, 2012
This 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., Welt, C. K., Rohr, F., Wessel, A., Anastasoaie, V., Feldman, H. A., Guo, C. -Y., Rubio-Gozalbo, E., Berry, G., Gordon, C. M.   +9 more
openaire   +2 more sources

[Diet treatment of classical galactosemia].

Orvosi hetilap, 2017
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 diet.
Erika, Kiss, Lídia, Balogh, Péter, Reismann   +2 more
openaire   +1 more source

Classical Galactosemia

The Endocrinologist, 1995
Francine Ratner Kaufman, Sunita Devgan
openaire   +1 more source

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

Medicina (Lithuania), 2020
Labanauskas Liutauras
exaly  

A patient with classical galactosemia is graduated with a university degree

Journal of Pediatric Endocrinology and Metabolism, 2018
Kostas Iákovou, Kleopatra H Schulpis
exaly  

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

Journal of Pediatric Endocrinology and Metabolism, 2019
Burcu ÖZTÜRK Hismi, Melis Kose, Nur Arslan   +2 more
exaly  

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Journal of Inherited Metabolic Disease, 2023
exaly  

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome

Molecular Genetics and Metabolism, 2020
Annet Bosch, Stefan Roosendaal, Anouk Schrantee   +2 more
exaly