Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease von SHARMA, Kumar, KARL, Bethany, DIAMOND-STANIC, Maggie, LINDENMEYER, Maja T, FORSBLOM, Carol, WEI WU, IX, Joachim H, IDEKER, Trey, KOPP, Jeffrey B, NIGAM, Sanjay K, COHEN, Clemens D, GROOP, Per-Henrik, MATHEW, Anna V, BARSHOP, Bruce A, NATARAJAN, Loki, NYHAN, William L, NAVIAUX, Robert K, GANGOITI, Jon A, WASSEL, Christina L, SAITO, Rintaro, MINYA PU, SHARMA, Shoba, YOU, Young-Hyun, LIN WANG

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Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease von Nguyen, Khue Vu, Nyhan, William L.

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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder von Fu, Rong, Ceballos-Picot, Irene, Torres, Rosa J., Larovere, Laura E., Yamada, Yasukazu, Nguyen, Khue V., Hegde, Madhuri, Visser, Jasper E., Schretlen, David J., Nyhan, William L., Puig, Juan G., O’Neill, Patrick J., Jinnah, H. A.

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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation von Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Didem, Almuqbil, Mohammed, Nyhan, William L.

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Disorders of purine and pyrimidine metabolism von Nyhan, William L.

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Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease von Nyhan, William L., McGowan, Karen, Barshop, Bruce A.

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Domino liver transplantation in maple syrup urine disease von Khanna, Ajai, Hart, Marquis, Nyhan, William L., Hassanein, Tarek, Panyard‐Davis, Janice, Barshop, Bruce A.

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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases von Jinnah, H.A., De Gregorio, Laura, Harris, James C., Nyhan, William L., O’Neill, J.Patrick

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Long-term follow-up of four patients affected by HHH syndrome von Kim, Sook Z., Song, Wung J., Nyhan, William L., Ficicioglu, Can, Mandell, Roseann, Shih, Vivian E.

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Atlas of Inherited Metabolic Diseases von Nyhan, William L., Hoffmann, Georg F., Al-Aqeel, Aida I., Barshop, Bruce A.

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CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency von Isackson, Paul J., Bennett, Michael J., Lichter-Konecki, Uta, Willis, Mary, Nyhan, William L., Sutton, V. Reid, Tein, Ingrid, Vladutiu, Georgirene D.

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Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome von Gertsman, Ilya, Gangoiti, Jon A., Nyhan, William L., Barshop, Bruce A.

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effects of alanine ingestion on metabolic responses to exercise in cyclists von Klein, Janet, Nyhan, William L, Kern, Mark

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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver von NYHAN, William L, GARGUS, J. Jay, BOYLE, Karen, SELBY, Rick, KOCH, Richard

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Chemical diagnosis of Lesch–Nyhan syndrome using gas chromatography-mass spectrometry detection von Ohdoi, Chie, Nyhan, William L., Kuhara, Tomiko

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A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease von Khasnavis, Tanya, Reiner, Gail, Sommerfeld, Barbara, Nyhan, William L., Chipkin, Richard, Jinnah, H.A.

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Developmental Disorder Associated with Increased Cellular Nucleotidase Activity von Page, Theodore, Yu, Alice, Fontanesi, John, Nyhan, William L.

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Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper von Auler, Kasie, Broock, Robyn, Nyhan, William L.

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Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA von Nguyen, Khue Vu, Naviaux, Robert K., Paik, Kacie K., Nyhan, William L.

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behavioral aspects of lesch–nyhan disease and its variants von schretlen, david j, ward, julianna, meyer, stephen m, yun, jonathan, puig, juan g, nyhan, william l, jinnah, ha, harris, james c

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