Results 31 to 40 of about 1,983 (198)

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of hepatomegaly, hypoglycemia, and elevated liver enzymes in infants is crucial for diagnosing glycogen storage disease. Liver biopsy with PAS–diastase staining provides definitive confirmation. Prompt metabolic management and regular follow‐up are essential to prevent progression of fibrosis and long‐term hepatic ...
Rajat Kumar Shah, Sajjad Ahmed Khan, Dikshya Devkota, Manjisha Aryal, Nishan Subedi, Basna Aryal, Binita Gurubacharya, Shamin Parajuli, Ashwini Gupta, Surya Bahadur Parajuli, Huma Kausar   +10 more
wiley   +1 more source

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

Galactosemia

Acta Paediatrica, 1954
SummaryComparative galactose tolerance tests have been carried out in one patient suffering from galactosemia and in three patients suffering from hepatic lesions of varying etiology. The findings indicate that galactosemia is an independent primary disease, in causal relation to isolated enzyme deficiency in the liver.
openaire   +3 more sources

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

Nursing care in the guthrie test - Assistência de enfermagem no teste do pezinho [PDF]

, 2023
Objective: to describe nursing care in the performance of the guthrie test in newborns. Method: exploratory, descriptive study of qualitative nature, with the Basic Health Units of the city of Uberaba-Minas Gerais as the setting.
Carvalho, Fernanda Gomes, Marqui, Alessandra Bernadete Trovó de   +1 more
core   +1 more source

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 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

Treatment of Single Patient With PMM2‐Congenital Disorder of Glycosylation With Govorestat (AT‐007), an Aldose Reductase Inhibitor

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Elizabeth R. Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, Riccardo Perfetti, Joseph Muenzer   +4 more
wiley   +1 more source

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

, 2023
Vasileios Maroulis, Andreas Agathangelidis, Anastasia Skouma, Triantafyllia Sdogou, Manoussos N. Papadakis, Evangelos Papakonstantinou, Panagiotis Girginoudis, Constantinos E. Vorgias, Vassiliki Aleporou, Panagoula Κollia   +9 more
openalex   +1 more source