Internal medicine, Endocrinology, Beta oxidation, Newborn screening and Tandem mass spectrometry are his primary areas of study. Piero Rinaldo specializes in Internal medicine, namely Asymptomatic. The concepts of his Endocrinology study are interwoven with issues in Pregnancy, Acyl CoA dehydrogenase, Acute fatty liver of pregnancy and Sudden death.
His biological study spans a wide range of topics, including Liver disease, Lipid metabolism, Carnitine and Fatty acid metabolism. His study looks at the relationship between Newborn screening and fields such as Congenital adrenal hyperplasia, as well as how they intersect with chemical problems. His Tandem mass spectrometry research includes elements of Dried blood and Spots.
The scientist’s investigation covers issues in Internal medicine, Endocrinology, Newborn screening, Biochemistry and Pediatrics. His research brings together the fields of Gastroenterology and Internal medicine. The Endocrinology study which covers Acyl CoA dehydrogenase that intersects with Allele.
His study in Newborn screening is interdisciplinary in nature, drawing from both Tandem mass spectrometry, Asymptomatic, Disease, Pathology and Genotype. His Beta oxidation study combines topics from a wide range of disciplines, such as Liver disease and Lipid metabolism. The various areas that he examines in his Sudden death study include Sudden infant death syndrome and Physiology.
Piero Rinaldo mainly focuses on Newborn screening, Internal medicine, Pediatrics, Pathology and Succinic semialdehyde dehydrogenase deficiency. His Newborn screening research incorporates elements of Biomarker, Homocysteine, Disease and Dried blood spot. Piero Rinaldo interconnects Gastroenterology and Endocrinology in the investigation of issues within Internal medicine.
His Endocrinology study incorporates themes from Chronic liver disease, Hepatocellular carcinoma, Liver disease and Population study. His research in Pediatrics intersects with topics in Ornithine transcarbamylase deficiency, Urea cycle disorder, Urea cycle, Medical diagnosis and Urine organic acids. His Staining study in the realm of Pathology connects with subjects such as Fumarylacetoacetate hydrolase.
Piero Rinaldo mainly investigates Newborn screening, Internal medicine, Pediatrics, Multiplex and Mucopolysaccharidosis type I. He combines subjects such as Pseudodeficiency alleles, Immunology, Disease, Dried blood spot and Biomarker with his study of Newborn screening. His studies deal with areas such as Gastroenterology, Endocrinology and Pathology as well as Internal medicine.
His Endocrinology research is multidisciplinary, incorporating elements of Amino acid and Glutamine. His Pediatrics research is multidisciplinary, incorporating perspectives in Ornithine transcarbamylase deficiency, Urea cycle disorder and Urea cycle. His work is dedicated to discovering how Multiplex, Digital polymerase chain reaction are connected with Multiplex ligation-dependent probe amplification, Sanger sequencing, Molecular biology, Spinal muscular atrophy and SMN1 and other disciplines.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Newborn screening: toward a uniform screening panel and system
Michael S. Watson;Marie Y. Mann;Michele A. Lloyd-Puryear;Piero Rinaldo.
Genetics in Medicine (2006)
Fatty Acid Oxidation Disorders
Piero Rinaldo;Dietrich Matern;Michael J. Bennett.
Annual Review of Physiology (2002)
Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary
Michael S. Watson;Marie Y. Mann;Michele A. Lloyd-Puryear;Piero Rinaldo.
Pediatrics (2006)
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Lena Bezman;Ann B. Moser;Gerald V. Raymond;Piero Rinaldo.
Annals of Neurology (2001)
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David M.S. McHugh;Cynthia A. Cameron;Jose E. Abdenur;Mahera Abdulrahman.
Genetics in Medicine (2011)
Quantitative Determination of Plasma C8–C26 Total Fatty Acids for the Biochemical Diagnosis of Nutritional and Metabolic Disorders
Susan A. Lagerstedt;Dallas R. Hinrichs;Susan M. Batt;Mark J. Magera.
Molecular Genetics and Metabolism (2001)
Medium-chain acyl-CoA dehydrogenase deficiency.
Piero Rinaldo;John J. O'Shea;Paul M. Coates;Daniel E. Hale.
The New England Journal of Medicine (1988)
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.
Jerry Vockley;Piero Rinaldo;Michael J. Bennett;Dietrich Matern.
Molecular Genetics and Metabolism (2000)
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
Richard G. Boles;Elizabeth A. Buck;Miriam G. Blitzer;Marvin S. Platt.
The Journal of Pediatrics (1998)
Acylcarnitine profile analysis.
Piero Rinaldo;Tina M Cowan;Dietrich Matern.
Genetics in Medicine (2008)
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