Results 21 to 30 of about 22,161 (138)
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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Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases [PDF]
Journal of Inherited Metabolic Disease, 2008 SummaryMultifactorial and polygenic inheritance is commonly recognized for many genetic conditions including physical anomalies, complex congenital malformation syndromes, and even common disorders such as adult‐onset diabetes mellitus. It has only recently been suggested as a mechanism for inheritance in inborn errors of metabolism.
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α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms
Orphanet Journal of Rare DiseasesBackground α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins +8 more
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Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity
Frontiers in Immunology, 2019 The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Lyubov E. Salnikova +5 more
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A perilous path: the inborn errors of sphingolipid metabolism
Journal of Lipid Research, 2019 The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn +2 more
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Hereditary myopathy with early respiratory failure in China: one case report and literatures review
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying +5 more
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Food allergy as one of the faces of primary immunodeficiency [PDF]
Exploration of Asthma & AllergyFood allergy is characterized by an abnormal immune reaction that occurs reproducibly upon exposure to a specific food. This immune response can lead to a variety of symptoms, the prevalence of food allergies has increased in recent decades, most likely ...
Polina Kostova +3 more
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Focus on the treatment of hereditary muscular diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 DOI: 10.3969/j.issn.1672-6731.2019.05 ...
Cheng ZHANG
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Red flags to suspect inborn errors of immunity in patients with autoimmune diseases
Biomédica: revista del Instituto Nacional de SaludInborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez +6 more
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Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 El síndrome Weaver es una enfermedad genética poco frecuente, caracterizada por una estatura alta, una apariencia facial típica y una discapacidad intelectual variable.
Elayne Esther Santana Hernández +1 more
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