Inherited Metabolic Disorders

Exhibiting 14 entries found in the GMN corpus.

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Year	Title & Tags	Author(s)
1810	On cystic oxide, a new species of urinary calculus. Genetics & Heredity	WOLLASTON, William Hyde (1766 – 1828)
1822–1823	Account of a singular variety of urine, which turned black soon after being discharged; with some particulars respecting its chemical properties. Immunology & Dermatology Genetics & Heredity	MARCET, Alexander John Gaspard (1770 – 1822)
1846–1848	Several specimens of cystine exhibited, with the particulars of two cases in which this deposit occurred in the urine. Immunology & Dermatology Genetics & Heredity	GARROD, Sir Alfred Baring (1819 – 1907)
1859	Lieber das Alcapton; ein neuer Beitrag zur Frage: welche Stoffe des Harns können Kupferreduction bewirken? Immunology & Dermatology Genetics & Heredity	BOEDEKER, Carl Wilhelm (1815 – 1895)
1861	Klinik der Leberkrankheiten. Bd. 2. Gastroenterology & Hepatology Genetics & Heredity	FRERICHS, Friedrich Theodor von (1819 – 1885)
1880–1881	Symmetrical changes in the region of the yellow spot in each eye of an infant. Ophthalmology & Vision Genetics & Heredity	TAY, Waren (1843 – 1927)
1882	De l’epithélioma primitif de la rate; hypertrophie idiopathique de la rate sans leucémie. Genetics & Heredity	GAUCHER, Philippe Charles Ernest (1854 – 1918)
1887	On arrested cerebral development, with special reference to its cortical pathology. Neurology & Psychiatry Genetics & Heredity	SACHS, Bernard (1858 – 1944)
1895	Ueber die Pentosurie, eine neue Anomalie des Stoffwechsels. Immunology & Dermatology Genetics & Heredity	SALKOWSKI, Ernst Leopold (1844 – 1923)
1909	Inborn errors of metabolism. Immunology & Dermatology Genetics & Heredity	GARROD, Sir Archibald Edward (1857 – 1936)
1914	Ein unbekanntes Krankheitsbild. Genetics & Heredity	NIEMANN, Albert (1834 – 1861)
1926	Der Morbus Gaucher und die ihm ähnlichen Erkrankungen. (Die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhyperplasie der Milz.) Immunology & Dermatology Genetics & Heredity	PICK, Ludwig (1868 – 1935)
1934	Utskillelse av fenylpyrodruesyre i urinen som stoffskifteanomali i forbindelse med imbecilletet. Neurology & Psychiatry Genetics & Heredity	FØLLING, Ivar Asbjørn (1888 – 1973)
1963	A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics Genetics & Heredity Women & Gender	GUTHRIE, Robert (1916 – 1995) SUSI, Ada J. (1918 – 2002)