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3,438 Possible Causes for Inborn

  • Endocrine Dysfunction

    Recent research into the role alternative hormonal axes play in spermatogenesis and promising new technologies that may correct inborn or acquired endocrinopathies leading[]

  • Osteoporosis

    Irritability, poor feeding, failure to thrive, hypotonia, and seizures place the infantile type in a broad differential diagnosis that includes inborn errors of energy metabolism[]

  • Malignant Neoplasm

    PATIENTS: 1036 consecutive patients who underwent transplantation for leukemia, lymphoma, inborn diseases of the hematopoietic and immune systems, or severe aplastic anemia[]

  • Adrenal Insufficiency

    Anne Puel, Sophie Cypowyj, László Maródi, Laurent Abel, Capucine Picard and Jean-Laurent Casanova , Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis[]

  • Tuberculosis

    Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity . Semin.[]

  • Rare Inborn Errors of Metabolism

    In 2015, FDA convened a workshop, "Assessing Neurocognitive Outcomes in Inborn Errors of Metabolism."[] Lee studies structural birth defects and inborn errors of metabolism.[] In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center.[]

  • Pentosuria

    Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria,[] Abstract Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism.[] Elsea , Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism , Journal of Inherited Metabolic Disease , 38 , 6 , (1029-1039) , (2015)[]

  • Metabolic Disorder of Amino Acids

    Several classic inborn errors of metabolism can be detected by the accumulation of certain amino acids as metabolites in body fluids like serum and urine.[] Inherited disorders are also known as inborn errors of metabolism or congenital metabolic diseases.[] The emergence of tandem mass spectrometry (MS/MS) coupled to liquid chromatography (LC) has made possible the measurement of many metabolites for the diagnosis of inborn errors[]

  • Methylmalonic Acidemia

    An inborn error of metabolism leading to chronic metabolic acidosis. Statistics from This is a PDF-only article.[] Gov't MeSH terms Amino Acid Metabolism, Inborn Errors/genetics Amino Acid Metabolism, Inborn Errors/metabolism* Animals Child, Preschool Crosses, Genetic Disease Models, Animal[] Abstract Methylmalonic acidemia is an inborn disorder of amino acid metabolism that commonly presents with neurologic deficits.[]

  • 5-Oxoprolinuria

    Abstract Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria (pyroglutamic aciduria) indicate that[] ., a new inborn error in the gamma-glutamyl cycle.[] However, several other inborn errors of metabolism and pathophysiological conditions must be taken into account when discovering 5-oxoprolinuria.[]

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