Results 51 to 60 of about 870 (139)

Classical galactosemia

, 2021
Classical Galactosemia is an inborn error of metabolism, a disease in which galactose (milk sugar) is not processed correctly in the cells of the body. The enzyme galactose-1-phosphate uridylyltransferase (GALT) is an enzyme essential for one of the steps in the conversion of galactose into glucose, which is used by the body for energy.
openaire   +3 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Classic Galactosemia Presenting with Unilateral Peters’ Anomaly [PDF]

Medical Principles and Practice, 2010
<i>Objective:</i> To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. <i>Clinical Presentation and Intervention:</i> A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice.
Hadeel, Faras, Fayka, Al-Raqum, Dina, Ramadan   +2 more
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Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +1 more source

A Drosophila melanogaster model of classic galactosemia [PDF]

Disease Models & Mechanisms, 2010
SUMMARY Classic galactosemia is a potentially lethal disorder that results from profound impairment of galactose-1-phosphate uridylyltransferase (GALT). Despite decades of research, the underlying pathophysiology of classic galactosemia remains unclear, in part owing to the lack of an appropriate animal model.
Rebekah F, Kushner, Emily L, Ryan, Jennifer M I, Sefton, Rebecca D, Sanders, Patricia Jumbo, Lucioni, Kenneth H, Moberg, Judith L, Fridovich-Keil   +6 more
openaire   +2 more sources

Long-term complications in classic galactosemia are not progressive

Molecular Genetics and Metabolism, 2023
Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound deficiency of galactose-1-P uridylyltransferase. Despite early detection and life-long dietary restriction of galactose, which is the current standard of care, many patients with CG grow to experience a range of long-term developmental complications that can ...
Nicole H, Smith, Emma T, Hendrickson, Olivia S, Garrett, Rachel A, Chernoff, Danielle H, Orloff, Jared J, Druss, Nichole M, Stettner, Nathan H, Paull, Judith L, Fridovich-Keil   +8 more
openaire   +2 more sources

Biochemical Diagnosis of Common Gene Mutations in Galactosemia

Journal of Rehabilitation, 2005
Objective: Galactosemia is an inborn error of galactose metabolism that is inherited in an autosomal recessive trait. Classical galactosemia is caused by deficient activity of the galactose-1-phosphate uridyltransferase (GALT) enzyme that can result in ...
Farzaneh Mirzajani, Reza Mirfakhraei, Neda Naghib-Zadeh, Farah Nabati, Sasan Saki, Elham Talachian, Masoud Houshmand   +6 more
doaj  

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study

Frontiers in Psychiatry
BackgroundClassical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties.
Aleksandra Gozdanek, Amanda Krzywdzińska-Rogowska, Barbara Remberk, Anna Bauer, Jolanta Sykut-Cegielska   +4 more
doaj   +1 more source

Traveller mothers: Obstetric and neonatal outcomes in an Irish maternity unit

International Journal of Gynecology &Obstetrics, Volume 173, Issue 2, Page 861-867, May 2026.
Abstract Objective Travellers' ethnicity was only formally acknowledged by the Irish State in 2017. They experience persistent racism and discrimination, resulting in poorer outcomes in terms of health, education, employment, and accommodation. Previous studies have reported higher rates of infant mortality and stillbirths among Traveller mothers. This
Nessa Hughes, Stephen W. Lindow, Lynsey Kavanagh, Barbara Burke, Lyndsay Creswell, Emma McNamee, Mark P. Hehir, Michael P. O'Connell   +7 more
wiley   +1 more source