Results 61 to 70 of about 1,106 (149)

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

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

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

Sweet and sour: an update on classic galactosemia. [PDF]

J Inherit Metab Dis, 2017
AbstractClassic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose‐1‐phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life‐threatening disease, whose clinical picture can be resolved by a galactose‐restricted diet.
Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I.   +3 more
europepmc   +4 more sources

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

Low prevalence of classical galactosemia in Korean population [PDF]

Journal of Human Genetics, 2010
This study described the clinical and molecular genetic features of classical galactosemia in Korean population to contribute to the insight in the spectrum of galactosemia in the world, as little is known about the spectrum and incidence of galactosemia in Asia.
Beom Hee, Lee, Chong Kun, Cheon, Jae-Min, Kim, Minji, Kang, Joo Hyun, Kim, Song Hyun, Yang, Gu-Hwan, Kim, Jin-Ho, Choi, Han-Wook, Yoo   +8 more
openaire   +2 more sources

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

Galactosemia Presenting as Neonatal Hemochromatosis: A Case of Acute Liver Failure Managed Successfully with Medical Therapy [PDF]

Annals of Neonatology Journal
Neonatal acute liver failure often has a heterogenous presentation. Extensive workup is essential for prompt diagnosis and efficient treatment. Neonatal hemochromatosis (NH) and Galactosemia are both serious conditions that can manifest with acute liver ...
Rabia Shah, Arun Thomas, Yasser Masood, Qamar Ali   +3 more
doaj   +1 more source

Report of the Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) on Hereditary Fructose Intolerance (HFI), or aldolase B deficiency, and fructose malabsorption (intestinal fructose intolerance)

Food Risk Assess Europe, Volume 4, Issue 2, April 2026.
Abstract Hereditary Fructose Intolerance (HFI), also known as aldolase B deficiency, is an inherited metabolic disorder caused by the deficiency of that enzyme, which participates in the fructose metabolism in the liver, kidneys and small intestine. Aldolase B deficiency brings about the accumulation of fructose‐1‐phosphate in these organs, which can ...
Araceli Díaz Perales, Irene Bretón Lesmes, Ángel Gil Izquierdo, Gema Nieto Martínez, Silvia Pichardo Sánchez, María de Cortes Sánchez Mata, María Ángeles Carlos Chillerón   +6 more
wiley   +1 more source

A Rare Case of Conjunctival and Scleral Necrosis Following Anterior Sub‐Tenon Triamcinolone Acetonide Injection in a Pediatric Patient

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT The sub‐Tenon route for injecting triamcinolone acetonide is one of the widely practiced surgical techniques for postoperative inflammation control, but complicated conjunctival and scleral necrosis are rare occurrences. A 3‐year‐old boy underwent bilateral cataract surgery and an anterior sub‐tendon injection of triamcinolone (AST) (20 mg ...
Muhammad Mateen Amir, Minahal Mateen, Bilal Aslam, Shafiq Ur Rahman, Fazeela Bibi, Khalil El Abdi, Said Hamid Sadat   +6 more
wiley   +1 more source