Clinical and biochemical features of fatty acid oxidation disorders
Rinaldo, P, Raymond, K, al-Odaib, A, Bennett, M J
Published in Current opinion in pediatrics (01.12.1998)
Published in Current opinion in pediatrics (01.12.1998)
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2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism
GIBSON, K. M, BURLINGAME, T. G, LINCK, L, POHOWALLA, P, SACKS, M, KISS, D, RINALDO, P, VOCKLEY, J, HOGEMA, B, JAKOBS, C, SCHUTGENS, R. B. H, MILLINGTON, D, ROE, C. R, ROE, D. S, SWEETMAN, L, STEINER, R. D
Published in Pediatric research (01.06.2000)
Published in Pediatric research (01.06.2000)
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Journal Article
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice
Ravi J Tolwani, Doug A Hamm, Liqun Tian, J Daniel Sharer, Jerry Vockley, Piero Rinaldo, Dietrich Matern, Trenton R Schoeb, Philip A Wood
Published in PLoS genetics (01.08.2005)
Published in PLoS genetics (01.08.2005)
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Mutation Detection by TaqMan-Allele Specific Amplification: Application to Molecular Diagnosis of Glycogen Storage Disease Type Ia and Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Fujii, Kunihiro, Matsubara, Yoichi, Akanuma, Jun, Takahashi, Kazutoshi, Kure, Shigeo, Suzuki, Yoichi, Imaizumi, Masue, Iinuma, Kazuie, Sakatsume, Osamu, Rinaldo, Piero, Narisawa, Kuniaki
Published in Human mutation (01.02.2000)
Published in Human mutation (01.02.2000)
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Molecular characterization of mitochondrial trifunctional protein deficiency : Formation of the enzyme complex is important for stabilization of both α- and β-subunits
USHIKUBO, S, AOYAMA, T, KAMIJO, T, WANDERS, R. J. A, RINALDO, P, VOCKLEY, J, HASHIMOTO, T
Published in American journal of human genetics (01.05.1996)
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Published in American journal of human genetics (01.05.1996)
Journal Article
A Defect in the Transport of Long-Chain Fatty Acids Associated with Acute Liver Failure
Al Odaib, Ali, Shneider, Benjamin L, Bennett, Michael J, Pober, Barbara R, Reyes-Mugica, Miguel, Friedman, Amy L, Suchy, Frederick J, Rinaldo, Piero
Published in The New England journal of medicine (10.12.1998)
Published in The New England journal of medicine (10.12.1998)
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Journal Article
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
Brackett, J C, Sims, H F, Rinaldo, P, Shapiro, S, Powell, C K, Bennett, M J, Strauss, A W
Published in The Journal of clinical investigation (01.05.1995)
Published in The Journal of clinical investigation (01.05.1995)
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Journal Article
Computer-based dynamic data analysis
Rinaldo, Piero, McHugh, David M, Marquardt, Gregg, Maffitt, Neil, Currier, Robert J
Year of Publication 25.10.2022
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Year of Publication 25.10.2022
Patent
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
Strauss, Arnold W., Bennett, Michael J., Rinaldo, Piero, Sims, Harold F., O'Brien, Laurie K., Zhao, Yiwen, Gibson, Beverly, Ibdah, Jamal
Published in Seminars in perinatology (01.04.1999)
Published in Seminars in perinatology (01.04.1999)
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Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003
Grier, Robert E., Gahl, William A., Cowan, Tina, Bernardini, Isa, McDowell, Geraldine A., Rinaldo, Piero
Published in Genetics in medicine (01.01.2004)
Published in Genetics in medicine (01.01.2004)
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Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid β-oxidation
JONES, P. M, QUINN, R, FENNESSEY, P. V, TJOA, S, GOODMAN, S. I, FIORE, S, BURLINA, A. B, RINALDO, P, BORIACK, R. L, BENNETT, M. J
Published in Clinical chemistry (Baltimore, Md.) (01.02.2000)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2000)
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The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots
Nagan, Narasimhan, Kruckeberg, Kent E, Tauscher, Angela L, Bailey, Karen Snow, Rinaldo, Piero, Matern, Dietrich
Published in Molecular genetics and metabolism (01.04.2003)
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Published in Molecular genetics and metabolism (01.04.2003)
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