Results 31 to 40 of about 22,161 (138)

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

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

Evaluating the Role of Genetic Testing for Inborn Errors of Immunity in Pediatric Patients with Very Early-Onset and Early-Onset Inflammatory Bowel Disease

Journal of Human Immunity
Introduction The incidence of inflammatory bowel disease (IBD) has significantly increased in developing countries over the last decade with a rising prevalence among the pediatric population. Very early-onset IBD (VEOIBD), defined as IBD in children younger than 6 years, requires a comprehensive diagnostic approach
Sarah Afzal, Elisabeth Hoyte, Rachel Bensen, David Lewis, Alka Goyal, Yael Gernez   +5 more
openaire   +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

Prevención de enfermedades genética en Las Tunas, nonestre de 2015

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: la inclusión de pacientes en los programas de prevención de enfermedades genéticas facilita la toma de conductas oportunas con la participación de la familia, contribuyendo a mantener indicadores adecuados de salud genética en la población ...
Orlando Peña Mancebo, Enelis Reyes Reyes, Nora María Orive Rodríguez, Lisset del Carmen Romero Portelles, Adriana Figuera Castillo   +4 more
doaj  

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

Hailey-Hailey disease: clinical, diagnostic and therapeutic update [PDF]

Anais Brasileiros de Dermatologia
Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes.
Adriana Maria Porro, Camila Arai Seque, Denise Miyamoto, Diego Vanderlei Medeiros da Nóbrega, Milvia Maria Simões e Silva Enokihara, Claudia Giuli Santi   +5 more
doaj   +1 more source

Is adermatoglyphia an additional feature of Kindler Syndrome? [PDF]

Anais Brasileiros de Dermatologia, 2015
A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired ...
Hiram Larangeira de Almeida Jr, Fernanda Mendes Goetze, Kenneth Fong, Joey Lai-Cheong, John McGrath   +4 more
doaj   +2 more sources

The silent crisis: Economic burden of genetic disease diagnosis in lowand middle-income countries (LMICs) [PDF]

Scripta Medica
Genetic disorders, although secondary to infectious and non-communicable diseases in the global health priority agenda, are an important drain, albeit ill-defined, on the economies of lowand middle-income countries (LMICs) and on their health resources ...
Baig Atif Amin, Thein Khin Hla Hla, Htoo Phone Myint, Anwar Khawar, Chopra Hitesh, Chopra Shivani   +5 more
doaj   +1 more source

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

Medicina, 2019
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin.
Laura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, Lucia Dora Notarangelo, Maria Eleonora Basso, Ivana Ferrero, Fabio Timeus, Franca Fagioli, Luigi Maiuri, Enrico Colombo, Paola Savoia   +10 more
doaj   +1 more source