Results 41 to 50 of about 1,106 (149)

Classic galactosemia: dietary dilemmas [PDF]

Journal of Inherited Metabolic Disease, 2010
Classic galactosemia (McKusic 230400) is an inborn error of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT, EC 2..7.712), resulting in accumulation of the metabolites galactitol and galactose-1-phosphate.
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Psychosocial developmental milestones in men with classic galactosemia [PDF]

Journal of Inherited Metabolic Disease, 2011
AbstractPatients with classic galactosemia suffer from several long term effects of their disease. Research in a group of mainly female patients has shown that these patients may also have a developmental delay with regard to their social aptitude. To study if male galactosemia patients achieve psychosocial developmental milestones more slowly than ...
Gubbels, C.S., Maurice-Stam, H., Berry, G.T., Bosch, A.M., Waisbren, S., Rubio-Gozalbo, M.E., Grootenhuis, M.A.   +6 more
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Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

Medicina, 2019
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism.
Alina Grama, Ligia Blaga, Alina Nicolescu, Călin Deleanu, Mariela Militaru, Simona Sorana Căinap, Irina Pop, Georgia Tita, Claudia Sîrbe, Otilia Fufezan, Mihaela Adela Vințan, Romana Vulturar, Tudor Lucian Pop   +12 more
doaj   +1 more source

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

JIMD Reports, 2023
We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1‐CDG) patient. She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia.
Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava   +5 more
doaj   +1 more source

Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions

Molecules, 2021
The third step of the catabolism of galactose in mammals is catalyzed by the enzyme galactose-1-phosphate uridylyltransferase (GALT), a homodimeric enzyme with two active sites located in the proximity of the intersubunit interface.
Anna Verdino, Gaetano D’Urso, Carmen Tammone, Bernardina Scafuri, Anna Marabotti   +4 more
doaj   +1 more source

Motor and Speech Disorders in Classic Galactosemia [PDF]

, 2013
Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders. Method This is a case-control study of 32 children (66% male) with galactosemia and neurologic speech disorders and 130 controls (50% male) ages 4-16 years.
Potter, Nancy L, Nievergelt, Yves, Shriberg, Lawrence D   +2 more
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Galactosemia and timing of puberty: a case report of early diagnosed hypergonadotropic hypogonadism

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Galactosemia is an inborn error of galactose metabolism, characterized by the failure to metabolize galactose correctly due to enzyme deficiencies. Type I or classic galactosemia is the most severe form of galactosemia. The diagnosis is made by metabolic
Cecilia Lugarà, Roberto Coco, Alessandra Li Pomi, Letteria Anna Morabito, Malgorzata Wasniewska, Tommaso Aversa   +5 more
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Classic galactosemia [PDF]

, 2018
Despite many years of research, there is still no effective treatment for classic galactosemia, a congenital metabolic disease. Patients develop damage to the ovaries, brain and bones, which leads to debilitating limitations. This PhD dissertation includes the development of a new animal model to obtain more knowledge about the disease and to develop ...
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Voice disorders in children with classic galactosemia [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractChildren with classic galactosemia are at risk for motor speech disorders resulting from disruptions in motor planning and programming (childhood apraxia of speech or CAS) or motor execution (dysarthria). In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic dysarthria, and 3% with mixed CAS ...
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Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source