Dietrich Matern: search on Z-Library

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1

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

Emily H. Smith, Cheryl Thomas, David McHugh, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, W. Edward Highsmith, Devin Oglesbee

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 313 KB

english, 2010

2

Mucopolysaccharide quantitation in urine by LC-MS/MS

Lacey, Jean M., Gavrilov, Dimitar K., Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 120 KB

english, 2019

3

Synergistic Heterozygosity: Disease Resulting from Multiple Partial Defects in One or More Metabolic Pathways

Jerry Vockley, Piero Rinaldo, Michael J. Bennett, Dietrich Matern, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

4

Multiplex assay for the tandem detection of ceramide trihexosides and sulfatides: Efficient first tier screening for Fabry, MLD, MSD, and Saposin B in urine

Nickander, Kim K., Lacey, Jean M., Gavrilov, Dimitar K., Matern, Dietrich, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 80 KB

english, 2019

5

F ATTY A CID O XIDATION D ISORDERS

Rinaldo, Piero, Matern, Dietrich, Bennett, Michael J.

Journal:

Annual Review of Physiology

Year:

2002

Language:

english

File:

PDF, 409 KB

english, 2002

6

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Kwon, Jennifer M., Matern, Dietrich, Kurtzberg, Joanne, Wrabetz, Lawrence, Gelb, Michael H., Wenger, David A., Ficicioglu, Can, Waldman, Amy T., Burton, Barbara K., Hopkins, Patrick V., Orsini, Joseph

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 621 KB

english, 2018

7

Peroxisomal proliferator activated receptor agonists as potential therapy for mitochondrial respiratory chain complex (RCC) defects

Joseph C. Huey, Bambi D. Anderson, Maureen M. Black, Dietrich Matern, Sihoun Hahn

Journal:

Year:

2006

Language:

english

File:

PDF, 40 KB

english, 2006

8

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

Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero

Journal:

International Journal of Neonatal Screening

Year:

2020

File:

PDF, 1.27 MB

2020

9

Composition of commercial media used for human embryo culture

Morbeck, Dean E., Krisher, Rebecca L., Herrick, Jason R., Baumann, Nikola A., Matern, Dietrich, Moyer, Thomas

Journal:

Fertility and Sterility

Year:

2014

Language:

english

File:

PDF, 672 KB

english, 2014

10

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

Martin Lindner, Georg F. Hoffmann, Dietrich Matern

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 110 KB

english, 2010

11

Placental Floor Infarction Complicating the Pregnancy of a Fetus with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Dietrich Matern, Bahig M. Schehata, Prem Shekhawa, Arnold W. Strauss, Michael J. Bennett, Piero Rinaldo

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 450 KB

english, 2001

12

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

Piero Rinaldo, Saba Zafari, Silvia Tortorelli, Dietrich Matern

Journal:

Development Diabilities Research Reviews

Year:

2006

Language:

english

File:

PDF, 256 KB

english, 2006

13

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

Dietrich Matern, Hans Seydewitz, Deeksha Bali, Christine Lang, Yuan-Tsong Chen

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

14

Precision newborn screening for three lysosomal disorders in Kentucky

Matern, Dietrich, Tortorelli, Silvia, Oglesbee, Devin, Gavrilov, Dimitar, Raymond, Kimiyo, Hart, Jeremy, Mott, Lea, Rinaldo, Piero

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

15

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase

J. Lawrence Merritt II, Dietrich Matern, Jerry Vockley, Jan Daniels, Tien V. Nguyen, David B. Schowalter

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 416 KB

english, 2006

16

Acute management of propionic acidemia

Kimberly A. Chapman, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V. Reid Sutton

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.01 MB

english, 2012

17

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Matern, Dietrich, Oglesbee, Devin, Tortorelli, Silvia

Journal:

Development Diabilities Research Reviews

Year:

2013

Language:

english

File:

PDF, 229 KB

english, 2013

18

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

Smith, Emily Helen, Gavrilov, Dimitar K., Oglesbee, Devin, Freeman, William D., Vavra, Michael W., Matern, Dietrich, Tortorelli, Silvia

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

19

232. Short-Term, In Vivo Correction of VLCAD Deficiency in Mice: Steps toward a Gene Therapy for Cardiomyopathy

Nguyen, Tien, Daniels, Jan, Merritt, Lawrence, Matern, Dietrich, Vockley, Jerry, Wood, Philip A., Schowalter, David B.

Journal:

Molecular Therapy

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

20

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

Majumdar, Ramanath, Yori, Andrew, Rush, Peggy W., Raymond, Kimiyo, Gavrilov, Dimitar, Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Feldman, Gerald L., Oglesbee, Devin

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 257 KB

english, 2017

21

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

Hans H. Seydewitz, Dietrich Matern

Journal:

Year:

2000

Language:

english

File:

PDF, 23 KB

english, 2000

22

Effects of proinflammatory cytokines on rat organic anion transporters during toxic liver injury and cholestasis

Andreas Geier, Christoph G. Dietrich, Sebastian Voigt, Suk-Kyum Kim, Thomas Gerloff, Gerd A. Kullak-Ublick, Johann Lorenzen, Siegfried Matern, Carsten Gartung

Journal:

Year:

2003

Language:

english

File:

PDF, 381 KB

english, 2003

23

Mucopolysaccharides quantitation in serum by liquid chromatography-tandem mass spectrometry

Raymond, Kimiyo, Lacey, Jean M., Dimitar, Gavrilov, Matern, Dietrich, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

24

Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD)

Matern, Dietrich, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Hart, Jeremy, Mott, Lea, Kurtzberg, Joanne, Prasad, Vinod, Rinaldo, Piero

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

25

Enlarged cervical lymph nodes and elevated liver chemistry tests: a therapeutic dilemma

Dietrich, Christoph G., Gartung, Carsten, Lorenzen, Johann, Geier, Andreas, Wasmuth, Hermann E., Matern, Siegfried, Lammert, Frank

Journal:

Annals of Hepatology

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

26

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

Vito Iacobazzi, Marzia Pasquali, Rani Singh, Dietrich Matern, Piero Rinaldo, Cristina Amat di San Filippo, Ferdinando Palmieri, Nicola Longo

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 114 KB

english, 2004

27

Interleukin-6 regulates hepatic transporters during acute-phase response

Elmar Siewert, Christoph G. Dietrich, Frank Lammert, Peter C. Heinrich, Siegfried Matern, Carsten Gartung, Andreas Geier

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 635 KB

english, 2004

28

Cholesterol esterification and Filipin staining in non-classical forms of Niemann–Pick type C

Gisele Bentz Pino, Susonne Ursin, Daniel Kraft, Brian Dawson, Dietrich Matern, Kimiyo Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

29

Newborn screening (NBS) for metachromatic leukodystrophy (MLD): results from a study of 100,000 deidentified NBS samples

Ridsdale, Ross, Kroll, Charles, Sanders, Karen, Olgesbee, Devin, Rinaldo, Piero, Hopwood, John, Lorey, Fred, Gelb, Michael, Raymond, Kimiyo, Gavrilov, Dimitar, Tortorelli, Silvia, Matern, Dietrich

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

30

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

Melanie B. Gillingham, Matthew Hirschfeld, Sarah Lowe, Dietrich Matern, James Shoemaker, William E. Lambert, David M. Koeller

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 433 KB

english, 2011

31

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

Annie M. Behrend, Cary O. Harding, James D. Shoemaker, Dietrich Matern, David J. Sahn, Diane L. Elliot, Melanie B. Gillingham

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 469 KB

english, 2012

32

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

A. Michele Schuler, Barbara A. Gower, Dietrich Matern, Piero Rinaldo, Philip A. Wood

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 349 KB

english, 2004

33

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

David B. Schowalter, Dietrich Matern, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 817 KB

english, 2005

34

Biochemical Correction of Very Long–chain Acyl-CoA Dehydrogenase Deficiency Following Adeno-associated Virus Gene Therapy

Merritt, J. Lawrence, Nguyen, Tien, Daniels, Jan, Matern, Dietrich, Schowalter, David B.

Journal:

Molecular Therapy

Year:

2009

Language:

english

File:

PDF, 1.42 MB

english, 2009

35

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

Weston, Brent W, Lin, Ju-Li, Muenzer, Joseph, Cameron, H Scott, Arnold, Roland R, Seydewitz, Hans H, Mayatepek, Ertan, Van Schaftingen, Emile, Veiga-Da-Cunha, Maria, Matern, Dietrich, Chen, Y T

Journal:

Pediatric Research

Year:

2000

Language:

english

File:

PDF, 1.04 MB

english, 2000

36

Combined analysis of glucosylsphingosine, lyso-sphingomyelin, cholestane-3β,5α,6β-triol, and 7-ketocholesterol in plasma for Gaucher and Niemann-Pick disease types A, B, and C

Turgeon, Coleman, Matern, Dietrich, Rinaldo, Piero, Gavrilov, Dimitar, Oglesbee, Devin, Tortorelli, Silvia, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

37

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening

Vidal-Folch, Noemi, Milosevic, Dragana, Majumdar, Ramanath, Gavrilov, Dimitar, Matern, Dietrich, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia, Abraham, Roshini S., Oglesbee, Devin

Journal:

The Journal of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

38

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

Sarah P Young, Dietrich Matern, Niels Gregersen, Robert D Stevens, Deeksha Bali, Hui-Ming Liu, Dwight D Koeberl, David S Millington

Journal:

Clinica Chimica Acta

Year:

2003

Language:

english

File:

PDF, 284 KB

english, 2003

39

Newborn screening for lysosomal and other disorders: a comparative effectiveness study

Matern, Dietrich, Oglesbee, Devin, Isaya, Grazia, Tortorelli, Silvia, Gavrilov, Dimitar, Hopwood, John, Lorey, Fred, Rinaldo, Piero, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

40

Biochemical Correction of Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency After Portal Vein Injection of rAAV8-SCAD

Beattie, Stuart G., Goetzman, Eric, Conlon, Thomas, Germain, Sean, Walter, Glenn, Campbell-Thompson, Martha, Matern, Dietrich, Vockley, Jerry, Flotte, Terence R.

Journal:

Human Gene Therapy

Year:

2008

Language:

english

File:

PDF, 525 KB

english, 2008

41

Composition of protein supplements used for human embryo culture

Morbeck, Dean E., Paczkowski, Melissa, Fredrickson, Jolene R., Krisher, Rebecca L., Hoff, Heather S., Baumann, Nikola A., Moyer, Thomas, Matern, Dietrich

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2014

Language:

english

File:

PDF, 249 KB

english, 2014

42

Newborn screening for lysosomal storage disorders

Matern, Dietrich, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia

Journal:

Seminars in Perinatology

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

43

Enhanced interpretation of newborn screening results without analyte cutoff values

Marquardt, Gregg, Currier, Robert, McHugh, David M.S., Gavrilov, Dimitar, Magera, Mark J., Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H., Tortorelli, Silvia, Turg

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 767 KB

english, 2012

44

Therapierefraktäre schwere pulmonal-arterielle Hypertonie nach Lebertransplantation bei HCV-Leberzirrhose

Dietrich, C G, Gartung, C, Siewert, E, Lammert, F, Matern, S, Geier, A

Journal:

Zeitschrift für Gastroenterologie

Year:

2006

File:

PDF, 209 KB

2006

45

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

McCoin, Colin S., Piccolo, Brian D., Knotts, Trina A., Matern, Dietrich, Vockley, Jerry, Gillingham, Melanie B., Adams, Sean H.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 750 KB

english, 2016

46

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

Gillingham, Melanie B., Elizondo, Gabriela, Behrend, Annie, Matern, Dietrich, Schoeller, Dale A., Harding, Cary O., Purnell, Jonathan Q.

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 2.33 MB

english, 2019

47

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

Prem S. Shekhawat, Sonne R. Srinivas, Dietrich Matern, Michael J. Bennett, Richard Boriack, Varghese George, Hongyan Xu, Puttur D. Prasad, Penny Roon, Vadivel Ganapathy

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 2.29 MB

english, 2007

48

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

Dietrich Matern, Patricia Hart, Amy P. Murtha, Jerry Vockley, Niels Gregersen, David S. Millington, William R. Treem

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

49

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

Hall, Patricia, Michels, Virginia, Gavrilov, Dimitar, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

50

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

Tolwani, Ravi J., Hamm, Doug A., Tian, Liqun, Sharer, J. Daniel, Vockley, Jerry, Rinaldo, Piero, Matern, Dietrich, Schoeb, Trenton R., Wood, Philip A.

Journal:

Year:

2005

Language:

english

File:

PDF, 441 KB

english, 2005

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