Results 11 to 20 of about 39,998 (271)

Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017–2022 [PDF]

Frontiers in Genetics
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi‐Yang Tang, Xiaoyan He   +10 more
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POS1287 NEXT GENERATION SEQUENCING ANALYSIS IDENTIFIES HIGH FREQUENCY OF GENETIC VARIANTS POTENTIALLY LINKED TO INBORN ERRORS OF IMMUNITY IN COMMON VARIABLE IMMUNODEFICIENCY PATIENTS WITH AUTOIMMUNE AND INFLAMMATORY RHEUMATIC DISEASES

Annals of the Rheumatic Diseases
Paolo Semeraro, M. Frassi, Silvia Giliani, F. Franceschini, Paolo Airó   +4 more
openalex   +2 more sources

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

Italian Journal of Pediatrics, 2022
Background Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to ...
Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou   +4 more
doaj   +1 more source

Emphasized the diagnosis and therapy of curative neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj   +1 more source

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon

Frontiers in Genetics, 2022
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon.
Doaa O. Salman, Rami Mahfouz, Elio R. Bitar, Jinane Samaha, Jinane Samaha, Pascale E. Karam, Pascale E. Karam   +6 more
doaj   +1 more source

Rare genetic causes of meningitis and encephalitis [PDF]

Encephalitis, 2022
Differential diagnosis of meningitis and encephalitis is often very challenging because it cannot be determined based on symptoms, and the diseases have various causes.
Jangsup Moon
doaj   +1 more source

Elevated IgE Levels—An Allergy or an Underlying Inborn Error of Immunity in Children with Recurrent Infections?

Antibodies, 2023
Elevated immunoglobulin E (IgE) is a hallmark of allergic diseases. However, high IgE levels also occur in a number of other infectious and noninfectious diseases.
Polina Kostova, Vera Papochieva, Dimitrinka Miteva, Bilyana Georgieva, Sirma Mileva, Martin Shahid, Tsvetelin Lukanov, Guergana Petrova   +7 more
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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
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Syndrome in Question [PDF]

Anais Brasileiros de Dermatologia, 2015
Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome.
Juliano Peruzzo, Fernanda Luca Nazar, Mariana Quirino Tubone, Gabriela Fortes Escobar, Tania Ferreira Cestari   +4 more
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A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

Frontiers in Neurology, 2020
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
Juan Darío Ortigoza-Escobar
doaj   +1 more source