Metabolism, Inborn Errors
This graph shows the total number of publications written about "Metabolism, Inborn Errors" by people in the URMC Research Network by year, and whether "Metabolism, Inborn Errors" was a major or minor topic of these publication.
Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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DeLuca JM, Kearney MH, Norton SA, Arnold GL. Parents' experiences of expanded newborn screening evaluations. Pediatrics. 2011 Jul; 128(1):53-61.
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Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar; 102(3):326-38.
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Fong CT. Principles of inborn errors of metabolism: an exercise. Pediatr Rev. 1995 Oct; 16(10):390-5.
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D'Angio CT, Dillon MJ, Leonard JV. Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr. 1991 Feb; 150(4):259-63.
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Goldsmith LA. Molecular mechanisms of genetic disorders of keratinization. Arch Dermatol. 1976 Mar; 112(3):375-8.
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Travis LB, Street L, Smith E, Chipps B. Renal involvement in systemic diseases in childhood. Perspect Nephrol Hypertens. 1976; 3:275-95.
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Valentine WN, Bennett JM, Krivit W, Konrad PN, Lowman JT, Paglia DE, Wakem CJ. Nonspherocytic haemolytic anaemia with increased red cell adenine nucleotides, glutathione and basophilic stippling and ribosephosphate pyrophosphokinase (RPK) deficiency: studies on two new kindreds. Br J Haematol. 1973 Feb; 24(2):157-67.
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Moss AJ, Harris DJ. Congenital herniation of the large bowel into the pericardial cavity. Survival into adulthood despite a generalized connective tissue disorder. Dis Chest. 1969 Apr; 55(4):301-5.
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Barness LA, Morrow G. Methylmalonic aciduria. A newly discovered inborn error. Ann Intern Med. 1968 Sep; 69(3):633-5.
