Results 11 to 20 of about 38,593 (268)
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 +7 more
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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 +7 more
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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 +4 more
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A journey through the history of Neurogenetics
Arquivos de Neuro-Psiquiatria, 2021 Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era.
Thiago Yoshinaga Tonholo SILVA +3 more
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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population [PDF]
Frontiers in Genetics, 2019 Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expanded newborn screening has been used for genetic analysis
Hong Li +7 more
openaire +4 more sources
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
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Vohwinkel syndrome: ichthyosiform variant in a family [PDF]
Anais Brasileiros de Dermatologia, 2018 : Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr +2 more
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The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
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Coincident onset of multiple sclerosis and herpes simplex virus 1 encephalitis. a case report [PDF]
, 2017 Background: Along with vitamin D, smoking, body mass index and others, Epstein Barr virus, other herpesviruses and human endogenous retroviruses represent plausible environmental risk factors for multiple sclerosis.
Buscarinu, M. C. +7 more
core +2 more sources
Frontiers in Immunology, 2022 Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. However, a few number of autoimmune diseases has a monogenic cause, mostly in children.
Manuela Cortesi +7 more
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