Results 1 to 10 of about 618,834 (263)

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children’s Hospital of ...
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
openaire   +3 more sources

Pulmonary involvement in siblings with Gaucher disease type III [PDF]

Vojnosanitetski Pregled, 2011
Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a ...
Đorđević Maja, Minić Predrag, Sarajlija Adrijan, Đuričić Slaviša M., Đokić Dragomir, Marković Obren   +5 more
doaj   +1 more source

Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease

Frontiers in Immunology, 2022
Inflammatory bowel diseases (IBD) are chronic inflammatory conditions of the gastrointestinal tract, including Crohn’s disease, ulcerative colitis and inflammatory bowel disease-undefined (IBD-U).
J. Ouahed
semanticscholar   +1 more source

Focus on the treatment of hereditary muscular diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.05 ...
Cheng ZHANG
doaj  

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Biomédica: revista del Instituto Nacional de Salud
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez   +6 more
doaj   +1 more source

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

Scientific Reports, 2022
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency’s and other disorders affecting different aspects of the immune system.
A. Rawat, Madhubala Sharma, P. Vignesh, A. Jindal, D. Suri, Jhumki Das, Vibhu Joshi, R. Tyagi, Jyoti Sharma, G. Kaur, Y. Lau, K. Imai, S. Nonoyama, M. Lenardo, Surjit Singh   +14 more
semanticscholar   +1 more source

Síndrome Weaver

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
El síndrome Weaver es una enfermedad genética poco frecuente, caracterizada por una estatura alta, una apariencia facial típica y una discapacidad intelectual variable.
Elayne Esther Santana Hernández, Rafael Alfredo Llauradó Robles   +1 more
doaj  

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia

Biomédica: revista del Instituto Nacional de Salud
Introduction. Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. Objective.
Mónica Fernandes Pineda, Andrés F. Zea-Vera   +1 more
doaj   +1 more source

Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.

PLoS Genetics, 2020
Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they ...
Huimin Na, Stefan Zdraljevic, Robyn E Tanny, Albertha J M Walhout, Erik C Andersen   +4 more
doaj   +1 more source

Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo

Allergy, Asthma & Clinical Immunology, 2022
Background IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema.
Leonardo Oliveira Mendonça, Adriana Pitchon dos Reis Chuster, Mayra Barros Dorna, Samar Freschi Barros, Janaina Baptista Alves, Victor Lucas Gonçalves, Ariana Campos Yang, Jorge Kalil, Myrthes Anna Maragna Toledo-Barros, Cristina Maria Kokron   +9 more
doaj   +1 more source