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Piero Rinaldo

Showing results (71-80 of 100) with videos related to

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Stem Cell Research|June 1, 2014
Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver diseaseRaymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe diseaseColeman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
The Journal of Clinical Endocrinology and Metabolism|August 5, 2004
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasiaCarla Z Minutti, Jean M Lacey, Mark J Magera, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.
The American Journal of Pathology|November 18, 2016
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1Faysal Elgilani, Shennen A Mao, Jaime M Glorioso, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
The Journal of Pediatrics|April 17, 2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometrySilvia Tortorelli, Coleman T Turgeon, James S Lim, et al.
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Clinical Chemistry|March 12, 2015
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervalsLars Mørkrid, Alexander D Rowe, Katja B P Elgstoen, et al.
Pageof 10

Showing results (71-80 of 100) with videos related to

Sort By:
Pageof 10
Stem Cell Research|June 1, 2014
Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver diseaseRaymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe diseaseColeman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
The Journal of Clinical Endocrinology and Metabolism|August 5, 2004
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasiaCarla Z Minutti, Jean M Lacey, Mark J Magera, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.
The American Journal of Pathology|November 18, 2016
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1Faysal Elgilani, Shennen A Mao, Jaime M Glorioso, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
The Journal of Pediatrics|April 17, 2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometrySilvia Tortorelli, Coleman T Turgeon, James S Lim, et al.
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Clinical Chemistry|March 12, 2015
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervalsLars Mørkrid, Alexander D Rowe, Katja B P Elgstoen, et al.
Pageof 10