Newborn Screening for Lysosomal Storage Disorders and Other Neuronopathic Conditions

Por Matern, Dietrich, Oglesbee, Devin, Tortorelli, Silvia
Publicado em 2013

Fetal Fatty Acid Oxidation Disorders, Their Effect on Maternal Health and Neonatal Outcome: Impact of Expanded Newborn Screening on Their Diagnosis and Management

Por SHEKHAWAT, PREM S., MATERN, DIETRICH, STRAUSS, ARNOLD W.
Publicado em 2005

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

Por Gillingham, Melanie B., Matern, Dietrich, Harding, Cary O.
Publicado em 2009

Carnitine Deficiency in OCTN2(−/−) Newborn Mice Leads to a Severe Gut and Immune Phenotype with Widespread Atrophy, Apoptosis and a Pro-Inflammatory Response

Por Sonne, Srinivas, Shekhawat, Prem S., Matern, Dietrich, Ganapathy, Vadivel, Ignatowicz, Leszek
Publicado em 2012

Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: Implications for gut health

Por Shekhawat, Prem S, Sonne, Srinivas, Carter, A Lee, Matern, Dietrich, Ganapathy, Vadivel
Publicado em 2012

Effects of Adeno-Associated Virus Serotype and Tissue-Specific Expression on Circulating Biomarkers of Propionic Acidemia

Por Guenzel, Adam J., Hillestad, Matthew L., Matern, Dietrich, Barry, Michael A.
Publicado em 2014

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

Por Merritt, J. Lawrence, Nguyen, Tien, Daniels, Jan, Matern, Dietrich, Schowalter, David B.
Publicado em 2009

Long-Term Sex-Biased Correction of Circulating Propionic Acidemia Disease Markers by Adeno-Associated Virus Vectors

Por Guenzel, Adam J., Collard, Renata, Kraus, Jan P., Matern, Dietrich, Barry, Michael A.
Publicado no Hum Gene Ther (2015)

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

Por Gillingham, Melanie B., Harding, Cary O., Schoeller, Dale A., Matern, Dietrich, Purnell, Jonathan Q.
Publicado em 2013

Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs

Por De Jesús, Víctor R., Adam, Barbara W., Mandel, Daniel, Cuthbert, Carla D., Matern, Dietrich
Publicado no Mol Genet Metab (2014)

LONG CHAIN FATTY ACID (LCFA) ABNORMALITIES IN HYPER IgD SYNDROME (HIDS) AND FAMILIAL MEDITERRANEAN FEVER (FMF): NEW INSIGHT INTO HERITABLE PERIODIC FEVERS

Por Simon, Anna, Drenth, Joost PH, Matern, Dietrich, Goetzman, Eric S., Hager, Elizabeth J., Gibson, K Michael
Publicado em 2013

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

Por Sarafoglou, Kyriakie, Himes, John H., Lacey, Jean M., Netzel, Brian C., Singh, Ravinder J., Matern, Dietrich
Publicado em 2011

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

Por Gillingham, Melanie B., Connor, William E., Matern, Dietrich, Rinaldo, Piero, Burlingame, Terry, Meeuws, Kaatje, Harding, Cary O.
Publicado em 2003

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

Por Hanchard, Neil A, Skierka, Jennifer, Weaver, Amy, Karon, Brad S, Matern, Dietrich, Cook, Walter, O'Kane, Dennis J
Publicado em 2011

Impaired fasting tolerance among Alaska Native Children with a common Carnitine Palmitoyltransferase 1A sequence variant

Por Gillingham, Melanie B., Hirschfeld, Matthew, Lowe, Sarah, Matern, Dietrich, Shoemaker, James, Lambert, William E., Koeller, David M.
Publicado em 2011

Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice

Por Beattie, Stuart G., Goetzman, Eric, Tang, Qiuishi, Conlon, Thomas, Campbell-Thompson, Martha, Matern, Dietrich, Vockley, Jerry, Flotte, Terence R.
Publicado no J Gene Med (2008)

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

Por McCoin, Colin S., Piccolo, Brian D., Knotts, Trina A., Matern, Dietrich, Vockley, Jerry, Gillingham, Melanie B., Adams, Sean H.
Publicado no J Inherit Metab Dis (2016)

SUBSTRATE OXIDATION & CARDIAC PERFORMANCE DURING EXERCISE IN DISORDERS OF LONG CHAIN FATTY ACID OXIDATION

Por Behrend, Annie M, Harding, Cary O, Shoemaker, James D, Matern, Dietrich, Sahn, David J, Elliot, Diane L, Gillingham, Melanie B
Publicado em 2011

Composition of protein supplements used for human embryo culture

Por Morbeck, Dean E., Paczkowski, Melissa, Fredrickson, Jolene R., Krisher, Rebecca L., Hoff, Heather S., Baumann, Nikola A., Moyer, Thomas, Matern, Dietrich
Publicado no J Assist Reprod Genet (2014)

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

Por Beattie, Stuart G., Goetzman, Eric, Conlon, Thomas, Germain, Sean, Walter, Glenn, Campbell-Thompson, Martha, Matern, Dietrich, Vockley, Jerry, Flotte, Terence R.
Publicado em 2008