Results 31 to 40 of about 202 (131)

PE-69 Incorporação de dietas nutricionais para doenças da triagem neonatal no SUS/MG: relato de experiência

Jornal de Assistência Farmacêutica e Farmacoeconomia
Relato de experiência: O Programa Nacional de Triagem Neonatal identifica precocemente doenças metabólicas, genéticas, enzimáticas e endocrinológicas, permitindo tratamento oportuno. A SES/MG gerencia os fluxos dessa triagem no SUS. Inicial- mente, eram
Tayanna Aparecida Oliveira Santos, Samira do Nascimento Mateus Nunes Lyra, Luciana Cássia Oliveira Barbosa   +2 more
doaj   +1 more source

Efeitos da administração aguda de galactose sobre o estado redox celular em estruturas cerebrais de ratos jovens [PDF]

, 2016
Tese de doutorado apresentada ao Programa de Pós-Graduação em Ciências da Saúde da Universidade do Extremo Sul Catarinense para obtenção do título de Doutor em Ciências da Saúde.A galactosemia é um erro inato do metabolismo em que há deficiência no ...
Castro, Márcia Bairros de
core  

Factores sociodemográficos maternos asociados con la lactancia materna exclusiva [PDF]

, 2020
Introduction: Breastfeeding is essential for the proper growth and development of children due to its energy and nutritional composition, immunological factors, and safety from a hygienic and health perspective.
Conceição, Sueli Ismael Oliveira, Pinheiro Barbosa, Késya Irene   +1 more
core   +3 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 tipo III [PDF]

, 2013
Un gran número de enfermedades metabólicas pertenecen al grupo de enfermedades clasificadas como enfermedades raras. Las mutaciones en cada una de las tres enzimas encargadas del correcto metabolismo de la galactosa producen un tipo de enfermedad rara ...
Brokate-Llanos, Ana M., Muñoz, Manuel J.   +1 more
core   +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

Insuficiencia hepática aguda grave. Forma de presentación de la galactosemia en un lactante [PDF]

, 2015
Se realiza la presentación de una lactante con cuadro grave de insuficiencia hepática aguda que sobrevive a esta situación, luego de confirmarse que se trataba de una galactosemia donde se impuso tratamiento específico y de sostén que permitieron que la ...
Arrieta García, Rosaralis, Martínez Alvarez, Mayra, Medina Alí, Frank E., Toledo Padilla, Raquel Lázara   +3 more
core   +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

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

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