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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[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov]

  • Malignant Neoplasm

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

  • 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[doi.org]

  • Tuberculosis

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

  • Rare Inborn Errors of Metabolism

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

  • 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,[ncbi.nlm.nih.gov] Abstract Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism.[ncbi.nlm.nih.gov] Elsea , Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism , Journal of Inherited Metabolic Disease , 38 , 6 , (1029-1039) , (2015)[doi.org]

  • 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.[sigmaaldrich.com] Inherited disorders are also known as inborn errors of metabolism or congenital metabolic diseases.[biotechnologyforums.com] 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[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia

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

  • 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[ncbi.nlm.nih.gov] ., a new inborn error in the gamma-glutamyl cycle.[ncbi.nlm.nih.gov] However, several other inborn errors of metabolism and pathophysiological conditions must be taken into account when discovering 5-oxoprolinuria.[ncbi.nlm.nih.gov]

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