Results 31 to 40 of about 870 (139)

Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races ...
Ajmal Kader, Christina Ong, Veena Logarajah, Kong Boo Phua, Ee Shien Tan   +4 more
doaj   +1 more source

Gastrointestinal Health in Classic Galactosemia [PDF]

, 2016
Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become seriously ill.
Kelly A, Shaw, Jennifer G, Mulle, Michael P, Epstein, Judith L, Fridovich-Keil   +3 more
openaire   +2 more sources

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +2 more sources

Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals

International Journal of Neonatal Screening, 2023
Determining the scope of a newborn screening program is a challenging health policy issue. Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical genetics, and biochemistry regarding the prospects for expanding the ...
Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, Rumen Stefanov   +12 more
doaj   +1 more source

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.
openaire   +5 more sources

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
openaire   +7 more sources

Analysis of common mutation for GALT gene in newborns with galacatosemia Nineveh governorate

مجلة مركز بحوث التقنيات الاحيائية, 2014
Iraq contains many diseases that have never been counted or examined, including diseases related to food, which has deteriorated in recent years, and has rapid and direct impact especially on the children category, one of these diseases is galactosemia.
Owayes M Alhassani, Akeel H. Alassie, Saad G. Saleh   +2 more
doaj   +1 more source

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments

The Turkish Journal of Pediatrics, 2018
The objectives of the study were to assess folate deficiency in patients with classic galactosemia, and to determine whether folic acid supplementation has an effect on galactose-1-phosphate uridyltransferase enzyme activity.
Muhittin Çelik, Nezir Özgün, Osman Akdeniz, Mücahit Fidan, Heybet Tüzün, Mehmet Şah İpek, Merve Emecan, Fatma Tuba Eminoğlu   +7 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
openaire   +3 more sources

A case of classical Galactosaemia presenting with Fanconi syndrome

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2019
Introduction Galactosemia is a rare autosomal recessive metabolic disorder with the prevalence of 1;60000. Classical Galactosemia (CG) is the most common variant of Galactosemia and which is due to deficiency of Galactose-1-phosphate uridyltransferace ...
Imalke Kankananarachchi, Thilina Madushanka Munasinghe, Chamidri Naotunna, Harshini Dharmawardena, Gemunu Hewawitharana, Navoda Atapattu, Sujeewa Amarasena   +6 more
doaj   +1 more source