Results 31 to 40 of about 5,107 (173)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

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  

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

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

Screening for galactosemia: is there a place for it?

International Journal of General Medicine, 2019
Magd A Kotb, Lobna Mansour, Radwa A ShammaPediatrics Department, Faculty of Medicine, Kasr Al Ainy, Cairo University, Cairo, EgyptAbstract: Galactose is a hexose essential for production of energy, which has a prebiotic role and is essential for ...
Kotb MA, Mansour L, Shamma RA
doaj  

The role of inborn errors of metabolism in the etiology of neonatal cholestasis: A single center experience

Trends in Pediatrics, 2023
Objective: The evaluation of patients with neonatal cholestasis is difficult due to the variety of cholestatic syndromes and non-specific clinical findings. It is important to recognize treatable diseases promptly.
Ayse Ergül Bozacı, Fatma Demirbaş Ar, AYSEL Tekmenuray Ünal, İbrahim Taş, Hüseyin Bilgin   +4 more
doaj   +1 more source

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

A case of neonatal galactosemia presenting with rare hematologic problems: factor V deficiency and hemophagocytic lymphohistiocytosis

The Turkish Journal of Pediatrics
Background. In the neonatal period, classical galactosemia usually presents with nonspecific clinical signs such as feeding intolerance, jaundice, lethargy, hypotonia, vomiting, and failure to thrive.
Şule Toprak, Ümran Koral, Serdar Alan, Hacer Fulya Gülerman, Meryem Albayrak   +4 more
doaj   +1 more source

Molecular characterization of novel and rare DNA variants in patients with galactosemia

Frontiers in Genetics, 2023
Introduction: Galactosemia is an inherited disorder caused by mutations in the three genes that encode enzymes implicated in galactose catabolism. Currently, the only available treatment for galactosemia is life-long dietary restriction of galactose ...
Vasileios Maroulis, Andreas Agathangelidis, Anastasia Skouma, Triantafyllia Sdogou, Manoussos N. Papadakis, Evangelos Papakonstantinou, Panagiotis Girginoudis, Constantinos E. Vorgias, Vassiliki Aleporou, Panagoula Kollia   +9 more
doaj   +1 more source

Policy Responses to the COVID‐19 Pandemic in High‐Income Countries and the Associated Maternal‐Infant Health Outcomes: A Systematic Literature and Policy Review

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Foreseeing how policy impacts pregnant women and infants is limited by ethical challenges of experimental research within these groups. The COVID‐19 pandemic generated natural experiments, offering rare opportunities to explore associations between specific policy responses and maternal‐infant health outcomes.
Ashleigh Shipton, Katie Mcbain, Melissa Wake, Sharon Goldfeld, Fiona Mensah   +4 more
wiley   +1 more source