Below are the most recent publications written about "Amino Acid Metabolism, Inborn Errors" by people in Profiles.
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Bilal M, Jafri L, Majid H, Khan AH, Ahmed S. Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan. J Coll Physicians Surg Pak. 2024 Jun; 34(6):646-649.
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Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab. 2020 11; 131(3):325-340.
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Majid H, Jafri L, Khan AH, Ali ZZ, Jamil A, Yusufzai N, Fatimah M, Afroze B. Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. J Pak Med Assoc. 2018 Apr; 68(4):510-514.
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Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B. Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. J Coll Physicians Surg Pak. 2017 Apr; 27(4):218-221.
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Brosco JP, Sanders LM, Dharia R, Guez G, Feudtner C. The lure of treatment: expanded newborn screening and the curious case of histidinemia. Pediatrics. 2010 Mar; 125(3):417-9.
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Stigsby B, Yarworth SM, Rahbeeni Z, Dabbagh O, de Gier Munk C, Abdo N, Brismar J, Gascon GG, Ozand PT. Neurophysiologic correlates of organic acidemias: a survey of 107 patients. Brain Dev. 1994 Nov; 16 Suppl:125-44.
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Kahler SG, Sherwood WG, Woolf D, Lawless ST, Zaritsky A, Bonham J, Taylor CJ, Clarke JT, Durie P, Leonard JV. Pancreatitis in patients with organic acidemias. J Pediatr. 1994 Feb; 124(2):239-43.
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Marks HG, Caro PA, Wang ZY, Detre JA, Bogdan AR, Gusnard DA, Zimmerman RA. Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report. Ann Neurol. 1991 Jul; 30(1):106-10.
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Esquivel CO, Mieles L, Marino IR, Todo S, Makowka L, Ambrosino G, Nakazato P, Starzl TE. Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma. Transplant Proc. 1989 Feb; 21(1 Pt 2):2445-6.
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Esquivel CO, Marino IR, Fioravanti V, Van Thiel DH. Liver transplantation for metabolic disease of the liver. Gastroenterol Clin North Am. 1988 Mar; 17(1):167-75.