Results 61 to 70 of about 63,582 (298)
Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity
, 2023 Visceral Leishmaniasis (VL) is a potentially fatal disease and may be associated with primary or acquired immunodeficiencies. There are few reports, in the literature, of inborn errors of immunity.
Andreia Cristiane Rangel Santos +3 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Secondary and Tertiary Prevention of Inborn Errors of Metabolism
, 2020 This thesis is focused on understanding inborn errors of metabolism, secondary and tertiary prevention of them, and also a feature addressing the limitations to effective management in developing world countries.
Olaosebikan, Kikelomo Olamide
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Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
, 2023 <p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin +9 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns +2 more
wiley +1 more source
Update on Neuropathies in Inborn Errors of Metabolism
, 2021 Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet.
Renata Pająk +3 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli +10 more
wiley +1 more source
Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Jushua Michel +8 more
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Arthritis Care &Research, EarlyView.Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah +6 more
wiley +1 more source
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions: A Diagnostic Algorithm With Focus on Treatable Conditions [PDF]
, 2018 Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to ...
Nenad Blau +25 more
core +1 more source