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mGem: When immunity turns against itself-GM-CSF autoantibodies drive opportunistic infection risk. [PDF]
mBioSengupta S, Williamson PR.
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Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept. [PDF]
Mol Cell PediatrKang Z, Zhang L.
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Adult-Onset Reye's Syndrome and the Risks of Low-Dose Aspirin Rechallenge: A Review of Current Literature and Future Directions. [PDF]
CureusGibson C, Noyes J, Goliger M, Guo J.
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Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges. [PDF]
J Mother ChildGłąb-Jabłońska E +5 more
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Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis. [PDF]
J Inherit Metab DisClayton PT, Hirachan R, Murphy E.
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Diagnosis of Inborn Errors of Amino Acid Metabolism
Archives of Pediatrics & Adolescent Medicine, 1967IN THE PAST, new syndromes were reported when an astute clinical observer noted a pattern of symptoms which had not previously been recognized. Recently, the trend has been toward the description of biochemical aberrations long before the clinical manifestations of the diseases are established.
H. Ghadimi
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Inborn errors of amino acid metabolism in North India
Journal of Inherited Metabolic Disease, 1993SummaryWe screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin‐layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic ...
M, Kaur, G P, Das, I C, Verma
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