D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Medicine D-index 73 Citations 14,851 234 World Ranking 16046 National Ranking 8163

Overview

What is he best known for?

The fields of study he is best known for:

  • Enzyme
  • Internal medicine
  • Gene

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.

His most cited work include:

  • Newborn screening: toward a uniform screening panel and system (391 citations)
  • A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women (367 citations)
  • Fatty Acid Oxidation Disorders (331 citations)

What are the main themes of his work throughout his whole career to date?

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.

He most often published in these fields:

  • Internal medicine (42.68%)
  • Endocrinology (35.98%)
  • Newborn screening (30.96%)

What were the highlights of his more recent work (between 2016-2021)?

  • Newborn screening (30.96%)
  • Internal medicine (42.68%)
  • Pediatrics (14.64%)

In recent papers he was focusing on the following fields of study:

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.

Between 2016 and 2021, his most popular works were:

  • Precision newborn screening for lysosomal disorders. (61 citations)
  • Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease (23 citations)
  • Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy (17 citations)

In his most recent research, the most cited papers focused on:

  • Enzyme
  • Internal medicine
  • Gene

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.

Best Publications

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)

627 Citations

Fatty Acid Oxidation Disorders

Piero Rinaldo;Dietrich Matern;Michael J. Bennett.
Annual Review of Physiology (2002)

539 Citations

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)

498 Citations

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)

381 Citations

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)

339 Citations

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)

296 Citations

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)

290 Citations

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)

275 Citations

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)

264 Citations

Acylcarnitine profile analysis.

Piero Rinaldo;Tina M Cowan;Dietrich Matern.
Genetics in Medicine (2008)

248 Citations

If you think any of the details on this page are incorrect, let us know.

Contact us

Best Scientists Citing Piero Rinaldo

Ronald J.A. Wanders

Ronald J.A. Wanders

University of Amsterdam

Publications: 105

Michael J. Bennett

Michael J. Bennett

University Hospital Southampton NHS Foundation Trust

Publications: 85

Jerry Vockley

Jerry Vockley

University of Pittsburgh

Publications: 81

Brage S. Andresen

Brage S. Andresen

University of Southern Denmark

Publications: 80

Niels Gregersen

Niels Gregersen

Aarhus University Hospital

Publications: 78

Seiji Yamaguchi

Seiji Yamaguchi

Shimane University

Publications: 50

Arnold W. Strauss

Arnold W. Strauss

Cincinnati Children's Hospital Medical Center

Publications: 44

Georg F. Hoffmann

Georg F. Hoffmann

University Hospital Heidelberg

Publications: 44

Peter Bross

Peter Bross

Aarhus University

Publications: 42

Ann B. Moser

Ann B. Moser

Johns Hopkins Medicine

Publications: 38

Jos P.N. Ruiter

Jos P.N. Ruiter

University of Amsterdam

Publications: 35

Hans R. Waterham

Hans R. Waterham

University of Amsterdam

Publications: 32

David S. Millington

David S. Millington

Duke University

Publications: 32

Sander M. Houten

Sander M. Houten

Icahn School of Medicine at Mount Sinai

Publications: 31

Toshiyuki Fukao

Toshiyuki Fukao

Gifu University

Publications: 29

Lodewijk IJlst

Lodewijk IJlst

University of Amsterdam

Publications: 27

Something went wrong. Please try again later.