Results 41 to 50 of about 5,107 (173)

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report

Medicina, 2023
Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye
Ioana Rosca, Alina Turenschi, Alin Nicolescu, Andreea Teodora Constantin, Adina Maria Canciu, Alice Denisa Dica, Elvira Bratila, Ciprian Andrei Coroleuca, Leonard Nastase   +8 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

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights

Molecular Genetics and Metabolism Reports
Background: Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. This study presents a 12-year experience, emphasizing disease diagnosis and screening performance.
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien   +6 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

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

Non‐Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Non‐syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools.
Pui Ling Thong, Nurfirdaus Musa, Nurul Husna Mohd Dani, Zurina Zainuddin   +3 more
wiley   +1 more source

The Prevalence and Clinical Study of Galactosemia Disease in a Pilot Screening Program of Neonates, Southern Iran [PDF]

Iranian Journal of Public Health, 2011
Background: The aim of the study was to research concerning the epidemiology of newborns' galactosemia during 2007-2008 to find out whether screening was necessary for Iranian newborns or not and also what the symptoms of this disease before or after ...
B Tarami, S Senemar, AH Ganjekarimi, S Senemar, M Bazrgar   +4 more
doaj   +2 more sources

Quantitative Bacterial Micro-Assay for Rapid Diagnosis of Galactosemia: Application in Galactosemia Neonatal Screening [PDF]

Journal of Sciences, Islamic Republic of Iran, 2009
In the present study a new economic and rapid bacterial micro-assay for simultaneous detection and quantitative measurement of serum galactose was developed.
S. Vallian
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