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, 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 (14137416) +4 more
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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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Genetic basis of hyperlysinemia [PDF]
, 2013 BACKGROUND: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported.
de Klerk, Johannis B. C. +39 more
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Liver-directed gene-based therapies for inborn errors of metabolism
, 2020 Inborn errors of metabolism include several genetic disorders due to disruption of cellular biochemical reactions. Although individually rare, collectively they are a large and heterogenous group of diseases affecting a significant proportion of patients.
Piccolo, Pasquale +5 more
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Pediatrics and Neonatology, 2020 BACKGROUND Inborn errors of bile acid metabolism (IEBAM) cause rare but treatable genetic disorders that can present as neonatal cholestasis or neurological diseases. Without timely primary bile acid treatment, patients may develop liver failure early in
Ju-Yin Chen +13 more
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Inborn Error of Immunity: A Journey Through Novel Genes and Clinical Presentation
, 2021 Clinicians often face challenges due to symptoms that may result from a primary inborn error of immunity. Although the genetic root of these diseases is still largely unknown, progressively an underlying genetic determinant either due to new genes or to ...
Domenico Ribatti +2 more
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The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
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Advances in quantitative MRI of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin +4 more
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Deciphering the Genetic Code of Autoimmune Kidney Diseases
, 2023 Autoimmune kidney diseases occur due to the loss of tolerance to self-antigens, resulting in inflammation and pathological damage to the kidneys. This review focuses on the known genetic associations of the major autoimmune kidney diseases that result in
Kim Maree O’Sullivan +2 more
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Rare metabolic diseases in the genomics era [PDF]
, 2023 Introduction: All inborn metabolic diseases are rare, having a prevalence less than 1:2000. Vast majority of them are monogenic and finding pathogenic genetic variantsis needed to setthe correct diagnosis, enable adequate treatment and provide genetic ...
Anđelković, Marina +7 more
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