Emergency management of inherited metabolic diseases
Prietsch, V., Lindner, M., Zschocke, J., Nyhan, W. L., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.11.2002)
Published in Journal of inherited metabolic disease (01.11.2002)
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Journal Article
The recognition of Lesch‐Nyhan syndrome as an inborn error of purine metabolism
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Journal Article
Conference Proceeding
The Spectrum of Mutations Causing HPRT Deficiency: An Update
Jinnah, H. A., Harris, J. C., Nyhan, W. L., O'Neill, J. P.
Published in Nucleosides, nucleotides & nucleic acids (31.12.2004)
Published in Nucleosides, nucleotides & nucleic acids (31.12.2004)
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Journal Article
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
Naviaux, Robert K., Nyhan, William L., Barshop, Bruce A., Poulton, Joanna, Markusic, David, Karpinski, Nancy C., Haas, Richard H.
Published in Annals of neurology (01.01.1999)
Published in Annals of neurology (01.01.1999)
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Journal Article
D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Van Der Knaap, M. S., Jakobs, C., Hoffmann, G. F., Nyhan, W. L., Renier, W. O., Smeitink, J. A. M., Catsman-Berrevoets, C. E., Hjalmarson, O., Vallance, H., Sugita, K., Bowe, C. M., Herrin, J. T., Craigen, W. J., Buist, N. R. M., Brookfield, D. S. K., Chalmers, R. A.
Published in Annals of neurology (01.01.1999)
Published in Annals of neurology (01.01.1999)
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Journal Article
Physiology and pathophysiology of organic acids in cerebrospinal fluid
Hoffmann, G F, Meier-Augenstein, W, Stöckler, S, Surtees, R, Rating, D, Nyhan, W L
Published in Journal of inherited metabolic disease (01.01.1993)
Published in Journal of inherited metabolic disease (01.01.1993)
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Journal Article
4‐Aminobutyrate aminotransferase (GABA‐transaminase) deficiency
Medina‐Kauwe, L. K., Tobin, A. J., De Meirleir, L., Jaeken, J., Jakobs, C., Nyhan, W. L., Gibson, K. M.
Published in Journal of inherited metabolic disease (01.06.1999)
Published in Journal of inherited metabolic disease (01.06.1999)
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Journal Article
Conference Proceeding
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
Hoffmann, G F, Charpentier, C, Mayatepek, E, Mancini, J, Leichsenring, M, Gibson, K M, Divry, P, Hrebicek, M, Lehnert, W, Sartor, K
Published in Pediatrics (Evanston) (01.05.1993)
Published in Pediatrics (Evanston) (01.05.1993)
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Journal Article
NTBC and Alkaptonuria
Anikster, Yair, Nyhan, William L., Gahl, William A.
Published in American journal of human genetics (01.09.1998)
Published in American journal of human genetics (01.09.1998)
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Journal Article
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
Chen, E, Nyhan, W L, Jakobs, C, Greco, C M, Barkovich, A J, Cox, V A, Packman, S
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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Journal Article
An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family
De Gregorio, L., Nyhan, W.L., Serafin, E., Chamoles, N.A.
Published in Molecular genetics and metabolism (01.03.2000)
Published in Molecular genetics and metabolism (01.03.2000)
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Journal Article
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia
Khanna, A., Gish, R., Winter, S. C., Nyhan, W. L., Barshop, B. A.
Published in JIMD Reports, Volume 25 (01.01.2016)
Published in JIMD Reports, Volume 25 (01.01.2016)
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Book Chapter
Journal Article
Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy
Shelton, G. Diane, Nyhan, William L., Kass, Philip H., Barshop, Bruce A., Haas, Richard H.
Published in Muscle & nerve (01.09.1998)
Published in Muscle & nerve (01.09.1998)
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Journal Article
Sensitive assay for mitochondrial DNA polymerase γ
NAVIAUX, R. K, MARKUSIC, D, BARSHOP, B. A, NYHAN, W. L, HAAS, R. H
Published in Clinical chemistry (Baltimore, Md.) (01.10.1999)
Published in Clinical chemistry (Baltimore, Md.) (01.10.1999)
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Journal Article