D. Matern

D. Matern, J. Gjevre, R. Taylor-Gjevre, 2013, Journal of population therapeutics and clinical pharmacology = Journal de la therapeutique des populations et de la pharamcologie clinique.

Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.

D. Matern, M. Gillingham, J. Shoemaker, 2011, Molecular genetics and metabolism.

Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency

D. Millington, D. Matern, J. V. Van Hove, 2000, Journal of Inherited Metabolic Disease.

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

N. Gregersen, R. Stevens, D. Millington, 2003, Clinica chimica acta; international journal of clinical chemistry.

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.

Diagnosis of Mitochondrial Trifunctional Protein Deficiency in a Blood Spot from the Newborn Screening Card by Tandem Mass Spectrometry and DNA Analysis

E. Mayatepek, D. Millington, D. Matern, 1999, Pediatric Research.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

P. Rinaldo, D. Matern, 2015 .

Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.

Matthew L. Hillestad, D. Matern, M. Barry, 2014, Human gene therapy.

Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.

J. Drenth, D. Matern, E. Goetzman, 2013, Molecular genetics and metabolism.

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

N. Lehman, H. Hoyme, S. Hintz, 2002, Molecular genetics and metabolism.

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

D. Matern, G. Hoffmann, M. Lindner, 2010, Journal of Inherited Metabolic Disease.

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.

Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.

D. Matern, M. Barry, J. Kraus, 2015, Human gene therapy.

Tetrahydrobiopterin induced neonatal tyrosinaemia

N. Blau, D. Matern, M. Beck, 1996, European Journal of Pediatrics.

Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation.

D. Sahn, D. Elliot, D. Matern, 2012, Molecular genetics and metabolism.

Detection of SARS-CoV-2 IgG antibodies in dried blood spots

E. Theel, D. Matern, Karen A. Sanders, 2021, Diagnostic Microbiology and Infectious Disease.

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.

Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.

Matthew L. Hillestad, D. Matern, M. Barry, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

J. Vockley, D. Matern, M. Gillingham, 2020, Molecular genetics and metabolism.

Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity

H. Wiebusch, D. Matern, M. Brandis, 1996, European Journal of Pediatrics.

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.

Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype

E. Schaftingen, M. Veiga-da-Cunha, E. Mayatepek, 2000, Pediatric Research.

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

J. Vockley, N. Gregersen, D. Millington, 2001, The Journal of pediatrics.

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.

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.

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.

Composition of protein supplements used for human embryo culture

R. Krisher, T. Moyer, D. Matern, 2014, Journal of Assisted Reproduction and Genetics.

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.

Reduced active transcellular intestinal oxalate secretion contributes to the pathogenesis of obesity-associated hyperoxaluria.

D. Matern, M. Bashir, S. Jeon, 2018, Kidney international.

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.

Metabolic basis of pediatric heart disease

C. Canter, D. Matern, J. Atkinson, 2005 .

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

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

Embryonic lethality in mice due to carnitine transporter OCTN2 defect and placental carnitine deficiency.

V. Ganapathy, D. Matern, P. Shekhawat, 2018, Placenta.

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

S. Cederbaum, B. Burton, N. Longo, 2008, Molecular genetics and metabolism.

Natural history of propionic acidemia.

Tiina K. Urv, V. Sutton, A. Gropman, 2012, 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.

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

M. Bennett, D. Matern, on behalf of the Acmg Laboratory Quality Assurance Committee, 2018, 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.

Chronic management and health supervision of individuals with propionic acidemia.

V. Sutton, A. Gropman, C. Venditti, 2012, Molecular genetics and metabolism.

Liver transplantation for glycogen storage disease types I, III, and IV

T. Starzl, Yuan-Tsong Chen, D. Matern, 1999, European Journal of Pediatrics.

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.

Acute management of propionic acidemia.

Tiina K. Urv, V. Sutton, A. Gropman, 2012, Molecular genetics and metabolism.

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.

Psychosine, a marker of Krabbe phenotype and treatment effect.

M. Poe, M. Gelb, D. Matern, 2017, Molecular genetics and metabolism.

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

D. Matern, J. Orsini, J. Pellegrino, 2021, International journal of neonatal screening.

Dietary Docosahexaenoic Acid Supplementation in Children With Autism

W. Barbaresi, R. Voigt, A. Weaver, 2013, Journal of pediatric gastroenterology and nutrition.

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

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

Neurologic considerations in propionic acidemia.

V. Sutton, J. Schreiber, A. Gropman, 2012, Molecular genetics and metabolism.

Cost Efficacy of &agr;‐Galactosidase A Enzyme Screening for Fabry Disease

S. Ommen, M. Ackerman, D. Matern, 2019, Mayo Clinic proceedings.

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

Yuan-Tsong Chen, D. Bali, D. Matern, 2007, European Journal of Pediatrics.

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

Yuan-Tsong Chen, D. Bali, D. Matern, 2002, European Journal of Pediatrics.

Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.

M. Tuchman, D. Babovic‐Vuksanovic, D. Matern, 2005, Molecular genetics and metabolism.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Robert A Harris, Stephan J Sanders, Matthew W State, 2012, Science.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Lawrence H. Uricchio, M. DePristo, K. Garimella, 2011, Human molecular genetics.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Lawrence H. Uricchio, M. DePristo, K. Garimella, 2011, Human molecular genetics.

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.

Making Decisions About Krabbe Disease Newborn Screening.

J. Kurtzberg, D. Matern, J. Orsini, 2022, Pediatrics.

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

M. Gelb, J. Kurtzberg, B. Burton, 2021, 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.

Expanded newborn screening for detection of vitamin B12 deficiency.

D. Matern, Amy Hietala, K. Sarafoglou, 2011, JAMA.

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.

Composition of commercial media used for human embryo culture.

R. Krisher, T. Moyer, D. Matern, 2014, Fertility and sterility.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

S. Waisbren, N. Gregersen, D. Matern, 2008, Molecular genetics and metabolism.

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 Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

S. Cederbaum, B. Burton, N. Longo, 2009, Molecular genetics and metabolism.

Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratory.

D. Matern, D. Morbeck, D. Walker, 2012, Fertility and sterility.

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.

Zinc deficiency in an exclusively breast-fed preterm infant

F. Heinen, D. Matern, M. Brandis, 2005, European Journal of Pediatrics.

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.

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

E. Leshinsky‐Silver, D. Lev, J. Vockley, 2008, Molecular genetics and metabolism.

Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice.

V. Ganapathy, M. Bennett, D. Matern, 2007, Molecular genetics and metabolism.

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.

B. Adam, D. Matern, V. D. De Jesús, 2014, Molecular genetics and metabolism.

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 .

Laboratory monitoring of patients with hereditary tyrosinemia type I.

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

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

D. Matern, J. Lebl, F. Votava, 2012, European Journal of Pediatrics.

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.

Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Brian C. Netzel, J. Himes, D. Matern, 2010, Hormone Research in Paediatrics.

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.

UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach

A. Weaver, D. O'Kane, N. Hanchard, 2011, BMC Medical Genetics.

Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long‐chain fatty acid oxidation disorders

D. Schoeller, D. Matern, M. Gillingham, 2019, Journal of inherited metabolic disease.

In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.

J. Vockley, D. Matern, D. Schowalter, 2005, Molecular genetics and metabolism.

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.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation

J. Vockley, S. Adams, D. Matern, 2016, Journal of Inherited Metabolic Disease.

Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.

D. Schoeller, D. Matern, M. Gillingham, 2013, American journal of physiology. Endocrinology and metabolism.

Tandem mass spectrometry in newborn screening

D. Matern, 2002 .

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 .

Acylcarnitines

D. Matern, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine

M. Baumgartner, T. Suormala, L. Wolfe, 2007, Pediatrics.

Precision newborn screening for lysosomal disorders

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

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

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

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.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency

W. Freeman, D. Matern, S. Tortorelli, 2010, Journal of Inherited Metabolic Disease.

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.

εγ-Thalassemia, a New Hemoglobinopathy Category.

E. Wieben, J. Hoyer, D. Matern, 2023, Clinical chemistry.

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.

Can psychosine and galactocerebrosidase activity predict early‐infantile Krabbe's disease presymptomatically?

L. Wrabetz, D. Matern, R. Carter, 2016, Journal of neuroscience research.

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease

M. Gelb, D. Matern, P. Dearmond, 2020, International journal of neonatal screening.

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.

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

J. Ellison, J. Vockley, B. Powell, 2010, Molecular genetics and metabolism.

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

Y. Chien, R. Giugliani, D. Matern, 2022, International journal of neonatal screening.

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome

R. Wanders, D. Matern, R. Ensenauer, 2003, European Journal of Pediatrics.

Rare Saposin A deficiency: Novel variant and psychosine analysis.

D. Matern, H. Dahmoush, D. Wenger, 2020, Molecular genetics and metabolism.

Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening

D. Matern, J. Chou, M. Brandis, 1996, Journal of Inherited Metabolic Disease.

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations

D. Matern, H. Seydewitz, 2000, Human mutation.

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.

Prevalence of SARS-CoV-2 Antibodies in a Multistate Academic Medical Center

Patrick W. Johnson, C. Vachon, A. Nassar, 2021, Mayo Clinic proceedings.

Clinical biochemical genetics in the twenty‐first century

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

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.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Stephan J Sanders, Robert A. Harris, S. Gabriel, 2012, Science.

EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.

D. Matern, M. Gillingham, C. Harding, 2009, Topics in clinical nutrition.

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

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

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

M. Bennett, D. Matern, on behalf of the Acmg Laboratory Quality Assurance Committee, 2018, Genetics in Medicine.

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders

D. Matern, S. Tortorelli, D. Gavrilov, 2023, Journal of Inherited Metabolic Disease.

Precision newborn screening for lysosomal disorders

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

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.

A Randomized, Double-Blind, Placebo-Controlled Trial of Dietary Docosahexaenoic Acid (DHA) Supplementation in Children with Autism

W. Barbaresi, R. Voigt, A. Weaver, 2013 .

Chronic management and health supervision of individuals with propionic acidemia.

C. Venditti, D. Matern, L. Pena, 2012, Molecular genetics and metabolism.

Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.

D. Matern, D. Schowalter, Tien V. Nguyen, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.