P. Rinaldo

R. Boles, P. Rinaldo, 2006, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders.

P. Rinaldo, J. Mcconnell, S. A. Lagerstedt, 2001, Molecular genetics and metabolism.

Analysis of plasma free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders

P. Rinaldo, H. Shin, M. Paik, 2000 .

Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders.

P. Rinaldo, Chunli Yu, K. Raymond, 1999, Seminars in perinatology.

A defect in the transport of long-chain fatty acids associated with acute liver failure.

F. Suchy, A. Friedman, M. Bennett, 1998, The New England journal of medicine.

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

T. Cowan, R. Boles, M. Blitzer, 1998, The Journal of pediatrics.

Sudden neonatal death in carnitine transporter deficiency.

C. Stanley, B. Y. Hsu, P. Rinaldo, 1997, The Journal of pediatrics.

Sudden death beyond SIDS.

R. Boles, P. Rinaldo, C. Boesel, 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

C. Stanley, K. Tanaka, J. O’Shea, 1988 .

Prenatal Diagnosis and Neonatal Monitoring of a Fetus with Glutaric Aciduria Type II Due to Electron Transfer Flavoprotein (β-Subunit) Deficiency

T. Hashimoto, S. Previs, P. Rinaldo, 1991, Pediatric Research.

Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.

K. Tanaka, I. Yokota, D. Millington, 1991, Pediatric pathology.

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

K. Tanaka, D. Hale, I. Yokota, 1991, American journal of human genetics.

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.

R. Jacobson, P. Rinaldo, D. Matern, 2006, Molecular genetics and metabolism.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

Maternal serum lipidomics identifies lysophosphatidic acid as a predictor of small for gestational age neonates.

A. Pandey, A. Madugundu, R. Khanam, 2021, Molecular omics.

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

P. Rinaldo, D. Matern, S. Tortorelli, 2020, International journal of neonatal screening.

Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.

J. Merritt, P. Rinaldo, L. L. Brody, 2018, Molecular genetics and metabolism.

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

P. Rinaldo, D. Matern, D. Milošević, 2017, The Journal of molecular diagnostics : JMD.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

N. Leslie, R. Hopkin, P. Rinaldo, 2015, Genetics in Medicine.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2016, Clinical chemistry.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

A. Moser, P. Rinaldo, D. Matern, 2015, Molecular genetics and metabolism.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

M. Baumgartner, H. Blom, A. Ribes, 2015, Journal of Inherited Metabolic Disease.

From art to science: oligosaccharide analysis by maldi-tof mass spectrometry finally replaces 1-dimensional thin-layer chromatography.

P. Rinaldo, K. Raymond, 2013, Clinical chemistry.

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

B. Andresen, J. Vockley, M. He, 2003, Pediatrics.

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.

B. Casetta, P. Rinaldo, D. Matern, 2004, Clinical chemistry.

Making the case for objective performance metrics in newborn screening by tandem mass spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2006, Mental retardation and developmental disabilities research reviews.

Committee Report: Advancing the current recommended panel of conditions for newborn screening

R. Howell, D. Dougherty, P. Rinaldo, 2007, Genetics in Medicine.

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

J. Abdenur, P. Rinaldo, D. Matern, 2010, Molecular genetics and metabolism.

Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening

P. Rinaldo, D. Matern, C. Harding, 2011, Pediatrics.

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

P. Rinaldo, D. Matern, S. Tortorelli, 2015, Journal of Inherited Metabolic Disease.

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

P. Rinaldo, D. Matern, M. Gillingham, 2003, Molecular genetics and metabolism.

Newborn screening of metabolic disorders: recent progress and future developments.

P. Rinaldo, D. Matern, S. Tortorelli, 2008, Nestle Nutrition workshop series. Paediatric programme.

Hepatocyte-like cells differentiated from human induced pluripotent stem cells: relevance to cellular therapies.

Piero Rinaldo, Scott L Nyberg, S. Nyberg, 2012, Stem cell research.

Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function

S. Nyberg, Jennifer L Luebke-Wheeler, P. Rinaldo, 2009, Hepatology.

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007)

P. Rinaldo, D. Matern, S. Tortorelli, 2007, Journal of Inherited Metabolic Disease.

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Clinical chemistry.

A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women

J. Ibdah, M. Bennett, P. Rinaldo, 1999 .

Newborn Screening in the Genomic Era : Setting a Research Agenda December

P. Rinaldo, A. Marziali, D. Valle, 2010 .

information exchange ordering and result reporting using health Improving newborn screening laboratory test

C. McDonald, G. Downing, S. Downs, 2022 .

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

M. Seashore, P. Rinaldo, J. Wood, 2001, Pediatrics.

Does metabolomic profile differ with regard to birth weight?

T. Halldorsson, P. Rinaldo, R. Geirsson, 2020, Pediatric Research.

Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

P. Rinaldo, D. Matern, A. Studinski, 2001, Prenatal diagnosis.

Limited Expansion of Human Hepatocytes in FAH/RAG2-Deficient Swine

Aaron J. Johnson, S. Nyberg, R. Prather, 2021, Tissue engineering. Part A.

Ruminal organic acid analysis by gas chromatography/mass spectrometry

P. Rinaldo, G. Bittante, M. Ramanzin, 1989 .

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

S. Edland, J. Vockley, B. Burton, 2004, American journal of human genetics.

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.

J. Ibdah, M. Bennett, P. Rinaldo, 1999, Seminars in perinatology.

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

R. Steiner, P. Rinaldo, A. Strauss, 1994, The Journal of clinical investigation.

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

P. Rinaldo, D. Matern, B. Robinson, 2005, Clinical chemistry.

Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP).

G. Sirugo, P. Rinaldo, G. Isaya, 1997, Genomics.

Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring.

J. O’Shea, P. Rinaldo, K. Tanaka, 1989, Biomedical & environmental mass spectrometry.

Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

L. Bolund, P. Bross, T. Jensen, 1996, Pediatric Research.

Newborn Screening for Inborn Errors of Metabolism

P. Rinaldo, D. Matern, B. Wilcken, 2012 .

Expanded newborn screening identifies maternal primary carnitine deficiency.

S. Cederbaum, N. Longo, M. Pasquali, 2007, Molecular genetics and metabolism.

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.

N. Longo, S. Dobrowolski, P. Rinaldo, 2004, Molecular genetics and metabolism.

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

J. Vockley, D. Babovic‐Vuksanovic, A. Sewell, 2001, Pediatric Research.

Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency.

S. Heales, P. Rinaldo, J. Leonard, 1993, The Journal of pediatrics.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

P. Rinaldo, D. Matern, 2015 .

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

T. Aoyama, R. Wanders, J. Vockley, 1996, American journal of human genetics.

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation

N. Longo, M. Pasquali, V. Iacobazzi, 2004, American journal of medical genetics. Part A.

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

N. Bresolin, C. Angelini, P. Rinaldo, 1986, Neurology.

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.

N. Nagan, P. Rinaldo, D. Matern, 2003, Molecular genetics and metabolism.

Renal Phosphate Wasting in Fibrous Dysplasia of Bone Is Part of a Generalized Renal Tubular Dysfunction Similar to That Seen in Tumor‐Induced Osteomalacia

S. Wientroub, P. Rinaldo, M. Collins, 2001, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.

P. Kao, P. Rinaldo, J. Lacey, 2001, Annals of clinical and laboratory science.

Cold storage of porcine hepatocyte spheroids for spheroid bioartificial liver

S. Nyberg, P. Rinaldo, D. Joo, 2019, Xenotransplantation.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

J. Bernstein, J. Abdenur, P. Rinaldo, 2010, The Journal of pediatrics.

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

P. Rinaldo, D. Matern, S. Tortorelli, 2008, Clinical chemistry.

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

K. Strauss, B. Casetta, P. Rinaldo, 2008, Clinical chemistry.

Improving newborn screening laboratory test ordering and result reporting using health information exchange

G. Downing, S. Downs, A. Zuckerman, 2022 .

Gene Expression and Functional Analyses of Primary Rat Hepatocytes on Nanofiber Matrices

S. Nyberg, P. Rinaldo, C. Brophy, 2009, Cells Tissues Organs.

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California

S. Sciortino, P. Rinaldo, S. Tortorelli, 2020, International journal of neonatal screening.

Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression

Xianlin Han, M. Frye, O. Fiehn, 2021, Translational Psychiatry.

Newborn screening for inherited metabolic disease

P. Rinaldo, D. Matern, 2010 .

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

G. Mitchell, P. Rinaldo, D. Matern, 2006, Molecular genetics and metabolism.

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

P. Rinaldo, D. Matern, S. Tortorelli, 2018, Clinical chemistry.

Liver disease in pregnancy.

P. Rinaldo, C. Riely, W. Treem, 1997, The New England journal of medicine.

Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation

P. Rinaldo, D. Matern, 2000, Genetics in Medicine.

Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots

E. Theel, P. Rinaldo, D. Matern, 2021, PloS one.

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

C. Scharfe, I. Holm, K. Swoboda, 2022, Frontiers in Genetics.

Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation.

B. Gower, P. A. Wood, P. Rinaldo, 2004, Molecular genetics and metabolism.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

New clinical phenotype of branched-chain acyl-CoA oxidation defect

E. Bertini, P. Rinaldo, F. Zacchello, 1991, The Lancet.

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.

J. Vockley, M. Bennett, P. Rinaldo, 2000, Molecular genetics and metabolism.

Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder.

A. Woolf, A. Wynshaw-Boris, P. Rinaldo, 1992, The Journal of pediatrics.

Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

C. Stanley, D. Hale, D. Millington, 1996, The American journal of gastroenterology.

Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation

M. Bennett, P. Rinaldo, A. Burlina, 1996, Pediatric Research.

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.

D. Hale, A. Bhala, M. Bennett, 1995, The Journal of pediatrics.

The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.

D. Hale, I. Yokota, P. Rinaldo, 1992, Progress in clinical and biological research.

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

A. Mathur, J. Vockley, P. Rinaldo, 1999, Circulation.

Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.

P. Rinaldo, 1999, Digestive diseases and sciences.

Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death.

J. Ibdah, M. Bennett, P. Rinaldo, 2001, The Journal of clinical investigation.

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

M. Bennett, P. Rinaldo, A. Strauss, 1995, The Journal of clinical investigation.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein

P. Rinaldo, F. Taroni, S. Donato, 1986, Neurology.

The Enzymatic Basis for the Dehydrogenation of 3-Phenylpropionic Acid: In Vitro Reaction of 3- Phenylpropionyl-CoA with Various Acyl-CoA Dehydrogenases

J. O’Shea, P. Rinaldo, Kay Tanaka, 1990, Pediatric Research.

STABLE ISOTOPE DILUTION METHOD FOR DIAGNOSIS OF MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

J. O’Shea, P. Rinaldo, Kay Tanaka, 1987, The Lancet.

Medium Chain 3-Ketoacyl-Coenzyme A Thiolase Deficiency: A New Disorder of Mitochondrial Fatty Acid β-Oxidation

T. Hashimoto, A. Komiyama, T. Aoyama, 1997, Pediatric Research.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice

P. A. Wood, T. Schoeb, J. Vockley, 2005, PLoS genetics.

Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.

D. Kurtz, W. O'Brien, P. A. Wood, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency

K. Tanaka, D. Hale, D. Millington, 1990, Journal of Inherited Metabolic Disease.

National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

D. Dietzen, W. H. Hannon, M. Bennett, 2009, Clinical chemistry.

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Michael S. Watson, Piero Rinaldo, B. Yawn, 2006, Pediatrics.

Impaired fatty acid oxidation in children on valproic acid and the effect of L‐carnitine

D. Schoeller, J. Tonsgard, P. Rinaldo, 1993, Neurology.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

C. Morel, P. Rinaldo, D. Watkins, 2005, Molecular genetics and metabolism.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Recent developments and new applications of tandem mass spectrometry in newborn screening

P. Rinaldo, D. Matern, S. Tortorelli, 2004, Current opinion in pediatrics.

Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA.

R. Quintero, P. Rinaldo, M. Evans, 1997, Fetal diagnosis and therapy.

Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry.

P. Rinaldo, D. Matern, M. J. Magera, 2000, Clinical chemistry.

Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry.

B. Casetta, P. Rinaldo, J. Lacey, 1999, Clinical chemistry.

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.

D. Chace, P. Rinaldo, D. Matern, 2004, The Journal of clinical endocrinology and metabolism.

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

P. Rinaldo, A. Pop, G. Salomons, 2020, JIMD reports.

The metabolic autopsy comes of age.

M. Bennett, P. Rinaldo, P Rinaldo, 2001, Clinical chemistry.

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.

M. Bennett, P. Rinaldo, M. Rashed, 1995, Clinical chemistry.

Clinical and biochemical features of fatty acid oxidation disorders.

M. Bennett, P. Rinaldo, K. Raymond, 1998, Current opinion in pediatrics.

Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance.

J. Cline, J. Ibdah, P. Rinaldo, 2005, Gastroenterology.

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

J. Ibdah, M. Bennett, P. Rinaldo, 1999, The New England journal of medicine.

Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.

R. Ehman, M. Yin, S. Nyberg, 2017, The American journal of pathology.

Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease.

S. Nyberg, M. Grompe, P. Rinaldo, 2014, Stem cell research.

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Molecular genetics and metabolism.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

M. Bennett, P. Rinaldo, D. Matern, 2001, Molecular genetics and metabolism.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

P. Rinaldo, D. Matern, S. Tortorelli, 2013, Molecular genetics and metabolism.

Fatty acid oxidation disorders.

Piero Rinaldo, M. Bennett, P. Rinaldo, 2002, Annual review of physiology.

Urinary Medium-Chain Acylcarnitines in Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Medium-Chain Triglyceride Feeding and Valproic Acid Therapy: Sensitivity and Specificity of the Radioisotopic Exchange/High Performance Liquid Chromatography Method

P. Rinaldo, D. Gage, D. Penn, 1992, Pediatric Research.

Ethylmalonic/Adipic Aciduria: Effects of Oral Medium-Chain Triglycerides, Carnitine, and Glycine on Urinary Excretion of Organic Acids, Acylcarnitines, and Acylglycines

Piero Rinaldo, Stephen F Previs, J. O’Shea, 1991, Pediatric Research.

Fatty Acid Transport and Mitochondrial Oxidation Disorders

P. Rinaldo, 2001, Seminars in liver disease.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

L. Bolund, P. Bross, B. Andresen, 2008, Human Genetics.

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

D. Hale, A. Sewell, A. Bhala, 1993, European Journal of Pediatrics.

Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.

S. Packman, P. Rinaldo, M. Fries, 1996, The Journal of pediatrics.

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

Piero Rinaldo, Patricia L. Hall, Robert J. Currier, 2014, Genetics in Medicine.

Tandem mass spectrometry in newborn screening: American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group

Joel Charrow, Piero Rinaldo, J. Charrow, 2000, Genetics in Medicine.

Carnitine and the premature.

V. Carnielli, P. Rinaldo, F. Donzelli, 1987, Biology of the neonate.

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

D. Lynch, P. Rinaldo, D. Matern, 2013, Clinical chemistry.

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

T. Bottiglieri, P. Rinaldo, E. Arning, 2020, Metabolic Brain Disease.

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

T. Bottiglieri, P. Rinaldo, P. Pearl, 2020, Orphanet Journal of Rare Diseases.

Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.

P. Rinaldo, J. Roullet, K. Gibson, 2019, Molecular genetics and metabolism.

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

J. Vockley, R. Steiner, R. Schutgens, 2000, Pediatric Research.

Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase.

O. Snead, K. Gibson, P. Rinaldo, 2006, Metabolism: clinical and experimental.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

S. Ferdinandusse, A. Stray-Pedersen, P. Rinaldo, 2020, International Journal of Neonatal Screening.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

S. Ferdinandusse, A. Stray-Pedersen, P. Rinaldo, 2020, International journal of neonatal screening.

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

D Matern, P A Wood, J R Lindsey, 2001, Human molecular genetics.

Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency

K. Tanaka, J. O’Shea, P. Rinaldo, 1989, Journal of Inherited Metabolic Disease.

Rapid, large‐scale formation of porcine hepatocyte spheroids in a novel spheroid reservoir bioartificial liver

Piero Rinaldo, Scott L Nyberg, S. Nyberg, 2005, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

P. Rinaldo, D. Matern, L. Hassan, 2017 .

Teaching pediatric laboratory medicine to pathology residents.

S. Perkins, T. Pysher, G. Lockitch, 2006, Archives of pathology & laboratory medicine.

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Brian C. Netzel, M. Schultz, P. Rinaldo, 2020, Molecular genetics and metabolism.

Cloning and Characterization of a Novel Peptidase from Rat and Human Ileum*

P. Dawson, A. Sun, P. Rinaldo, 1997, The Journal of Biological Chemistry.

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Christina Lam, P. Rinaldo, D. Matern, 2021, JIMD reports.

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

M. Bennett, P. Rinaldo, A. Burlina, 2000 .

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

P. Rinaldo, Norma P. Tavakoli, J. Orsini, 2021, International journal of neonatal screening.

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

T. Cowan, P. Rinaldo, D. Matern, 2005, Molecular genetics and metabolism.

Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urine.

P. Rinaldo, D. Matern, Charles A. Kroll, 2002, Clinical chemistry.

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Jong-Won Kim, P. Rinaldo, D. Matern, 2005, Genetics in Medicine.

Indoxyl sulfate, a gut microbiome-derived uremic toxin, is associated with psychic anxiety and its functional magnetic resonance imaging-based neurologic signature

A. Rush, O. Fiehn, H. Mayberg, 2020, Scientific Reports.

Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1

S. Nyberg, T. DeGrado, Y. Ikeda, 2016, Science Translational Medicine.

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children

Sharon F Terry, Piero Rinaldo, Ned Calonge, 2010, Genetics in Medicine.

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

Monique G M de Sain-van der Velden, Nanda M Verhoeven-Duif, Piero Rinaldo, 2012, JIMD reports.

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

G. Raymond, L. Wolfe, J. Vockley, 2008, Journal of Inherited Metabolic Disease.

A fluorogenic allele‐specific amplification method for DNA‐based screening for inherited metabolic disorders

Y. Matsubara, P. Rinaldo, K. Narisawa, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Hmong Population by Newborn Screening Using Tandem Mass Spectrometry Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the

B. Andresen, J. Vockley, P. Rinaldo, 2005 .

Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman

P. Rinaldo, A. Bale, K. Raymond, 1999, Genetics in Medicine.

ETHE1 mutations are specific to ethylmalonic encephalopathy

E. Papaleo, V. Tiranti, M. Zeviani, 2005, Journal of Medical Genetics.

Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes

S. Packman, P. Rinaldo, H. Kodama, 2003, Journal of Inherited Metabolic Disease.

Reply To: Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

P. Rinaldo, A. Burlina, 1994 .

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

John J. Mitchell, S. Lindstedt, E. Holme, 2012, Molecular genetics and metabolism.

3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.

A. Boner, P. Rinaldo, G. la Marca, 2012, JIMD reports.

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2018, Genetics in Medicine.

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

J. M. van de Kamp, P. Rinaldo, A. Schulze, 2015, Clinical chemistry.

A Disservice to Advances in Newborn Genetic Screening

M. Watson, R. Howell, P. Rinaldo, 2011, Journal of health and social behavior.

A new D‐galactose treatment monitoring index for PGM1‐CDG

P. Rinaldo, D. Matern, E. Perales-Clemente, 2021, Journal of inherited metabolic disease.

Short‐term response to dietary therapy in molybdenum cofactor deficiency

L. Ment, A. Horwich, R. Boles, 1993, Annals of neurology.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

R. Giugliani, P. Rinaldo, D. Matern, 2019, Molecular genetics and metabolism.

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

P. Rinaldo, D. Matern, J. Alexander, 2018, Genetics in Medicine.

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria

B. Lanpher, J. Tillema, P. Rinaldo, 2020, JIMD reports.

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

C. Stanley, M. Durán, M. Bennett, 1992, Progress in clinical and biological research.

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

B. Gower, P. A. Wood, J. Vockley, 2005, Molecular genetics and metabolism.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

H. Moser, A. Moser, G. Raymond, 2001, Annals of neurology.

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

E. Bertini, D. Hale, K. Gibson, 1994, The Journal of pediatrics.

Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry.

P. Rinaldo, D. Matern, M. J. Magera, 2001, Clinica chimica acta; international journal of clinical chemistry.

Inborn Errors of Mitochondrial Fatty Acid Oxidation

M. Bennett, P. Rinaldo, A. Strauss, 2000 .

Liver disease in pregnancy.

P. Rinaldo, C. Riely, W. Treem, 1997, The New England journal of medicine.

Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression

Xianlin Han, A. Rush, M. Frye, 2020, bioRxiv.

Clinical biochemical genetics in the twenty‐first century

P. Rinaldo, D. Matern, S. Hahn, 2004, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis

M. Rolland, P. Divry, K. Gibson, 1993, Journal of Inherited Metabolic Disease.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

M. Seashore, F. Bamforth, Y. Chien, 2011, Genetics in Medicine.

Hypoketotic hypoglycemic coma in a 21-month-old child.

C. Roe, M. Bennett, P. Rinaldo, 1999, Annals of emergency medicine.

Hypoketotic Hypoglycemic Coma in a

C. Roe, P. Rinaldo, M. Bennett, 1999 .

Cold Storage of Rat Hepatocyte Spheroids

S. Nyberg, P. Rinaldo, Yue Yu, 2014, Cell transplantation.

Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

G. Feldman, P. Rinaldo, D. Matern, 2017, Molecular genetics & genomic medicine.

Personalized nutrition for the diverse needs of infants and children.

P. Gluckman, T. Illig, M. Hanson, 2008 .

Viewpoint paper: Improving newborn screening laboratory test ordering and result reporting using health information exchange

G. Downing, A. Zuckerman, P. Rinaldo, 2010, J. Am. Medical Informatics Assoc..

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2017, Genetics in Medicine.

Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function

S. Nyberg, P. Rinaldo, R. Remmel, 2009, Hepatology.

Acylcarnitine profile analysis

T. Cowan, P. Rinaldo, D. Matern, 2008, Genetics in Medicine.

Homogentisic acid interference in routine urine creatinine determination.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Molecular genetics and metabolism.

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

W. Gahl, T. Cowan, P. Rinaldo, 2004, Genetics in Medicine.