Results 11 to 20 of about 36,538 (290)

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

open access: yesFrontiers 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   +6 more
doaj   +1 more source

Rare genetic causes of meningitis and encephalitis [PDF]

open access: yesEncephalitis, 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?

open access: yesAntibodies, 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
doaj   +1 more source

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

open access: yesFrontiers 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
doaj   +1 more source

Syndrome in Question [PDF]

open access: yesAnais 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
doaj   +1 more source

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]

open access: yesFrontiers 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

open access: yesFrontiers 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

A journey through the history of Neurogenetics

open access: yesArquivos 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
doaj   +1 more source

Vohwinkel syndrome: ichthyosiform variant in a family [PDF]

open access: yesAnais 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
doaj   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

open access: yes, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver   +2 more
core   +2 more sources

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