D
Dietrich Matern
Researcher at Mayo Clinic
Publications - 188
Citations - 9066
Dietrich Matern is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Newborn screening & Carnitine. The author has an hindex of 54, co-authored 172 publications receiving 7970 citations. Previous affiliations of Dietrich Matern include Children's National Medical Center & University of Rochester.
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Journal ArticleDOI
Fatty Acid Oxidation Disorders
TL;DR: The normal process of mitochondrial fatty acid beta-oxidation is addressed and the clinical, metabolic, and molecular aspects of more than 20 known inherited diseases of this pathway that have been described to date are discussed.
Journal ArticleDOI
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,Ona Adair,Shahira Ahmed Al Nuaimi,Henrik Åhlman,Jennifer J. Allen,Italo Antonozzi,Shaina Archer,Sylvia Mann Au,Christiane Auray-Blais,Mei W. Baker,Fiona Bamforth,Kinga Beckmann,Gessi Bentz Pino,Stanton L. Berberich,Robert J Binard,François Boemer,James R. Bonham,Nancy N. Breen,Sandra C. Bryant,Michele Caggana,S. Graham Caldwell,Marta Camilot,Carlene Campbell,Claudia Carducci,Rohit Cariappa,Clover Carlisle,Ubaldo Caruso,Michela Cassanello,Ane Miren Castilla,Daisy E. Castiñeiras Ramos,Pranesh Chakraborty,Ram Chandrasekar,Alfredo Chardon Ramos,David Cheillan,Yin-Hsiu Chien,Thomas A. Childs,Petr Chrastina,Yuri Cleverthon Sica,Jose Angel Cocho de Juan,Maria Elena Colandre,Veronica Cornejo Espinoza,Gaetano Corso,Robert Currier,Denis Cyr,Noemi Czuczy,Oceania D'Apolito,Tim Davis,Monique G.M. de Sain-van der Velden,Carmen Delgado Pecellin,Iole Maria Di Gangi,Cristina Di Stefano,Yannis Dotsikas,M. Downing,Stephen M. Downs,Bonifacio Dy,Mark Dymerski,Inmaculada Rueda,Bert Elvers,Roger B. Eaton,Barbara M. Eckerd,Fatma A. El Mougy,Sarah Eroh,Mercedes Espada,Catherine Evans,Sandy Fawbush,Kristel F. Fijolek,Lawrence Fisher,Leifur Franzson,Dianne M. Frazier,Luciana R.C. Garcia,Maria Sierra García Valdecasas Bermejo,Dimitar Gavrilov,Rosemarie Gerace,Giuseppe Giordano,Yolanda González Irazabal,Lawrence Greed,Robert E. Grier,Elyse Grycki,Xuefan Gu,Fizza Gulamali-Majid,Arthur F. Hagar,Lianshu Han,W. Harry Hannon,Christa Haslip,Fayza A. Hassan,Miao He,Amy Hietala,Leslie Himstedt,Gary Hoffman,William Hoffman,Philis Hoggatt,Patrick V. Hopkins,David M. Hougaard,Kerie Hughes,Patricia Hunt,Wuh-Liang Hwu,June Hynes,Isabel Ibarra-González,Cindy A. Ingham,Maria Ivanova,Ward B. Jacox,Catharine John,John P. Johnson,Jon J. Jonsson,Eszter Karg,David C. Kasper,Brenda Klopper,Dimitris Katakouzinos,Issam Khneisser,Detlef Knoll,Hirinori Kobayashi,Ronald Koneski,Viktor Kožich,Rasoul Kouapei,Dirk Kohlmueller,Ivo Kremensky,Giancarlo la Marca,Marcia Lavochkin,Soo-Youn Lee,Denis C. Lehotay,Aida Lemes,Joyce Lepage,Barbara G. Lesko,Barry Lewis,Carol Lim,Sharon Linard,Martin Lindner,Michele A. Lloyd-Puryear,Fred Lorey,Yannis L. Loukas,Julie Luedtke,Maffitt Neil,J. Fergall Magee,Adrienne Manning,Shawn M. Manos,Sandrine Marie,Sônia Marchezi Hadachi,Gregg Marquardt,Stephen J. Martin,Dietrich Matern,Stephanie K. Mayfield Gibson,Philip Mayne,Tonya D. McCallister,Mark McCann,Julie McClure,James McGill,Christine D. McKeever,Barbara McNeilly,Mark A. Morrissey,Paraskevi Moutsatsou,Eleanor A. Mulcahy,Dimitris Nikoloudis,Bent Nørgaard-Pedersen,Devin Oglesbee,Mariusz Ołtarzewski,Daniela Ombrone,Jelili Ojodu,Vagelis Papakonstantinou,Sherly Pardo Reoyo,Hyung Doo Park,Marzia Pasquali,Elisabetta Pasquini,Pallavi Patel,Kenneth A. Pass,Colleen K. Peterson,Rolf D. Pettersen,James Pitt,Sherry Poh,Arnold Pollak,Cory Porter,Philip A. Poston,Ricky W. Price,Cecilia Queijo,Jonessy Quesada,Edward Randell,Enzo Ranieri,Kimiyo Raymond,John E. Reddic,Alejandra Reuben,Charla Ricciardi,Piero Rinaldo,Jeff D. Rivera,Alicia Roberts,Hugo Rocha,Geraldine Roche,Cheryl R. Greenberg,José María Egea Mellado,María Jesús Juan-Fita,Consuelo Ruiz,Margherita Ruoppolo,S. Lane Rutledge,Euijung Ryu,Christine Saban,Inderneel Sahai,Maria Isabel Salazar García-Blanco,Pedro Santiago-Borrero,Andrea Schenone,Roland Schoos,Barb Schweitzer,Patricia Scott,Margretta R. Seashore,Mary Seeterlin,David E. Sesser,Darrin W. Sevier,Scott M. Shone,Graham Sinclair,Victor Anthony Skrinska,Eleanor Stanley,Erin T. Strovel,April L. Studinski Jones,Sherlykutty Sunny,Zoltan Takats,Tijen Tanyalcin,Francesca Teofoli,J. Robert Thompson,Kathy Tomashitis,Mouseline Torquado Domingos,Jasmin Torres,Rosario Torres,Silvia Tortorelli,Sándor Túri,Kimberley Turner,Nick Tzanakos,Alf Valiente,Hillary Vallance,Marcela Vela-Amieva,Laura Vilarinho,Ulrika von Döbeln,Marie-Françoise Vincent,B. Chris Vorster,Michael S. Watson,Dianne Webster,Sheila Weiss,Bridget Wilcken,Veronica Wiley,Sharon K. Williams,Sharon A. Willis,Michael Woontner,Katherine Wright,Raquel Yahyaoui,Seiji Yamaguchi,Melissa Yssel,Wendy M. Zakowicz +245 more
TL;DR: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
Journal ArticleDOI
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Gaia Novarino,Paul El-Fishawy,Hülya Kayserili,Nagwa A. Meguid,Eric Scott,Jana Schroth,Jennifer L. Silhavy,Majdi Kara,Rehab O. Khalil,Tawfeg Ben-Omran,A. Gulhan Ercan-Sencicek,Adel F. Hashish,Stephen Sanders,Abha R. Gupta,Hebatalla S. Hashem,Dietrich Matern,Stacey Gabriel,Larry Sweetman,Yasmeen Rahimi,Robert A. Harris,Matthew W. State,Joseph G. Gleeson +21 more
TL;DR: Inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) are identified in consanguineous families with autism, epilepsy, and intellectual disability and represents a potentially treatable syndrome.
Journal ArticleDOI
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
TL;DR: A database of the residual enzymatic activity retained by the G6Pase missense mutants is facilitating the correlation of the disease phenotype with the patients' genotype, and may help develop new, more causative therapies.
Journal ArticleDOI
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
Jean M. Lacey,Carla Z. Minutti,Mark J. Magera,Angela L. Tauscher,Bruno Casetta,Mark McCann,James F. Lymp,Si Houn Hahn,Piero Rinaldo,Dietrich Matern +9 more
TL;DR: Steroid profiling in blood spots can identify false-positive results obtained by conventional newborn screening for CAH.