OpenURL Connection Search

Select item for more details and to access through your institution.

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Published in:
2010
By:
- Dessein, Anne-Frédérique;
- Fontaine, Monique;
- Andresen, Brage S.;
- Gregersen, Niels;
- Brivet, Michèle;
- Rabier, Daniel;
- Napuri-Gouel, Silvia;
- Dobbelaere, Dries;
- Mention-Mulliez, Karine;
- Martin-Ponthieu, Annie;
- Briand, Gilbert;
- Millington, David S.;
- Vianey-Saban, Christine;
- Wanders, Ronald J. A.;
- Vamecq, Joseph
Publication type:
Case Study
Acute Fatty Liver of Pregnancy, Hemolysis, Elevated Liver Enzymes, and Low Platelets Syndrome, and Long Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency.
Published in:
American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 11, p. 2293
By:
- Treem, William R.;
- Shoup, Marie E.;
- Hale, Daniel E.;
- Bennett, Michael J.;
- Rinaido, Piero;
- Millington, David S.;
- Stanley, Charles A.;
- Riely, Caroline A.;
- Hyams, Jeffrey S.
Publication type:
Article
Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation.
Published in:
1987
By:
- Matchar, David B.;
- Feussner, John R.;
- Millington, David S.;
- Wilkinson Jr., Robert H.;
- Watson, Douglas J.;
- Gale, Diane;
- Matchar, D B;
- Feussner, J R;
- Millington, D S;
- Wilkinson, R H Jr;
- Watson, D J;
- Gale, D
Publication type:
journal article
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a <italic>NADK2</italic> start loss variant.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 692, doi. 10.1002/ajmg.a.38602
By:
- Pomerantz, Daniel J.;
- Ferdinandusse, Sacha;
- Cogan, Joy;
- Cooper, David N.;
- Reimschisel, Tyler;
- Robertson, Amy;
- Bican, Anna;
- McGregor, Tracy;
- Gauthier, Jackie;
- Millington, David S.;
- Andrae, Jaime L. W.;
- Tschannen, Michael R.;
- Helbling, Daniel C.;
- Demos, Wendy M.;
- Denis, Simone;
- Wanders, Ronald J. A.;
- Newman, John N.;
- Hamid, Rizwan;
- Phillips, III, John A.;
- Collaborators of UDN
Publication type:
Article
Application of continuous-flow liquid chromatography/fast-atom bombardment mass spectrometry to the analysis of diagnostic acylcarnitines in human urine.
Published in:
Rapid Communications in Mass Spectrometry: RCM, 1988, v. 2, n. 12, p. 269, doi. 10.1002/rcm.1290021205
By:
- Norwood, Daniel L.;
- Kodo, Naoki;
- Millington, David S.;
- Gaskell, S. J.
Publication type:
Article
Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory.
Published in:
Muscle & Nerve, 2009, v. 40, n. 1, p. 32, doi. 10.1002/mus.21376
By:
- Goldstein, Jennifer L.;
- Young, Sarah P.;
- Changela, Mohita;
- Dickerson, Gwen H.;
- Zhang, Haoyue;
- Dai, Jian;
- Peterson, Denise;
- Millington, David S.;
- Kishnani, Priya S.;
- Bali, Deeksha S.
Publication type:
Article
Extraction and analysis of carnitine and acylcarnitines by electrospray ionization tandem mass spectrometry directly from dried blood and plasma spots using a novel autosampler.
Published in:
Rapid Communications in Mass Spectrometry: RCM, 2012, v. 26, n. 21, p. 2548, doi. 10.1002/rcm.6370
By:
- Will Thompson, J.;
- Zhang, Haoyue;
- Smith, Peter;
- Hillman, Steven;
- Arthur Moseley, M.;
- Millington, David S.
Publication type:
Article
Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria.
Published in:
FASEB Journal, 2019, v. 33, n. 12, p. 14185, doi. 10.1096/fj.201901048RR
By:
- Yeo, Tsin W.;
- Bush, Peggy A.;
- Youwei Chen;
- Young, Sarah P.;
- Haoyue Zhang;
- Millington, David S.;
- Granger, Donald L.;
- Mwaikambo, Esther D.;
- Anstey, Nicholas M.;
- Weinberg, J. Brice
Publication type:
Article
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Published in:
Clinical Chemistry, 2016, v. 62, n. 11, p. 1430, doi. 10.1373/clinchem.2016.258459
By:
- Peake, Roy W. A.;
- Marsden, Deborah L.;
- Bodamer, Olaf A.;
- Gelb, Michael H.;
- Millington, David S.;
- Wijburg, Frits
Publication type:
Article
Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns.
Published in:
Clinical Chemistry, 2011, v. 57, n. 10, p. 1444, doi. 10.1373/clinchem.2011.163139
By:
- Sista, Ramakrishna S.;
- Eckhardt, Allen E.;
- Wang, Tong;
- Graham, Carrie;
- Rouse, Jeremy L.;
- Norton, Scott M.;
- Srinivasan, Vijay;
- Pollack, Michael G.;
- Tolun, Adviye A.;
- Bali, Deeksha;
- Millington, David S.;
- Pamula, Vamsee K.
Publication type:
Article
Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography--Tandem Mass Spectrometry.
Published in:
Clinical Chemistry, 2011, v. 57, n. 7, p. 1005, doi. 10.1373/clinchem.2010.161141
By:
- Haoyue Zhang;
- Young, Sarah P.;
- Auray-Blais, Christiane;
- Orchard, Paul J.;
- Tolar, Jakub;
- Millington, David S.
Publication type:
Article
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Published in:
JAMA Network Open, 2020, v. 3, n. 1, p. e1920356, doi. 10.1001/jamanetworkopen.2019.20356
By:
- Lee, Stacey;
- Clinard, Kristin;
- Young, Sarah P.;
- Rehder, Catherine W.;
- Fan, Zheng;
- Calikoglu, Ali S.;
- Bali, Deeksha S.;
- Bailey, Donald B.;
- Gehtland, Lisa M.;
- Millington, David S.;
- Patel, Hari S.;
- Beckloff, Sara E.;
- Zimmerman, Scott J.;
- Powell, Cynthia M.;
- Taylor, Jennifer L.
Publication type:
Article
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 18, p. 5009, doi. 10.1093/hmg/ddu218
By:
- Houten, Sander M.;
- Denis, Simone;
- te Brinke, Heleen;
- Jongejan, Aldo;
- van Kampen, Antoine H.C.;
- Bradley, Edward J.;
- Baas, Frank;
- Hennekam, Raoul C.M.;
- Millington, David S.;
- Young, Sarah P.;
- Frazier, Dianne M.;
- Gucsavas-Calikoglu, Muge;
- Wanders, Ronald J.A.
Publication type:
Article
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States.
Published in:
2022
By:
- Millington, David S.;
- Ficicioglu, Can
Publication type:
Editorial
The Editor's Choice for Issue 4, Volume 7.
Published in:
2022
By:
- Millington, David S.
Publication type:
Editorial
Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.
Published in:
International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 8, doi. 10.3390/ijns8010008
By:
- Padilla, Carmencita D.;
- Therrell Jr., Bradford L.;
- Alcausin, Maria Melanie Liberty B.;
- Chiong, Mary Anne D.;
- Abacan, Mary Ann R.;
- Reyes, Ma. Elouisa L.;
- Jomento, Charity M.;
- Dizon-Escoreal, Maria Truda T.;
- Canlas, Margarita Aziza E.;
- Abadingo, Michelle E.;
- Posecion, J. Edgar Winston C.;
- Abarquez, Conchita G.;
- Andal, Alma P.;
- Elizaga, Anna Lea G.;
- Halili-Mendoza, Bernadette C.;
- Otayza, Maria Paz Virginia K.;
- Millington, David S.
Publication type:
Article
The Editor's Choice for Issue 1, Volume 7.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020031
By:
- Millington, David S.
Publication type:
Article
912. Long-Term Efficacy of AAV Vector-Mediated Gene Therapy in the Mouse Model for Glycogen Storage Disease Type la (GSD-Ia)
Published in:
2005
By:
- Koeberl, Dwight D.;
- Sun, Baodong;
- Damodaran, Tirupapuliyur;
- Brown, Talmage;
- Bird, Andrew;
- Schneider, Ayn;
- Millington, David S.;
- Chen, Y.-T.
Publication type:
Abstract
The Role of Technology in Newborn Screening.
Published in:
North Carolina Medical Journal, 2019, v. 80, n. 1, p. 49, doi. 10.18043/ncm.80.1.49
By:
- Millington, David S.
Publication type:
Article
Quantification of Glycosaminoglycans in Urine by Isotope‐Dilution Liquid Chromatography‐Electrospray Ionization Tandem Mass Spectrometry.
Published in:
Current Protocols, 2023, v. 3, n. 3, p. 1, doi. 10.1002/cpz1.701
By:
- Zhang, Haoyue;
- Young, Sarah P.;
- Millington, David S.
Publication type:
Article
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2069, doi. 10.1093/hmg/10.19.2069
By:
- Cox, Keith B.;
- Hamm, Doug A.;
- Millington, David S.;
- Matern, Dietrich;
- Vockley, Jerry;
- Rinaldo, Piero;
- Pinkert, Carl A.;
- Rhead, William J.;
- Lindsey, J. Russell;
- Wood, Philip A.
Publication type:
Article
Urinary F2-isoprostanes as a biomarker of reduced risk of type 2 diabetes.
Published in:
2012
By:
- Il'yasova D;
- Spasojevic I;
- Base K;
- Zhang H;
- Wang F;
- Young SP;
- Millington DS;
- D'Agostino RB Jr;
- Wagenknecht LE;
- Il'yasova, Dora;
- Spasojevic, Ivan;
- Base, Karel;
- Zhang, Haoyue;
- Wang, Frances;
- Young, Sarah P;
- Millington, David S;
- D'Agostino, Ralph B Jr;
- Wagenknecht, Lynne E
Publication type:
journal article
Urinary F<sub>2</sub>-Isoprostanes as a Biomarker of Reduced Risk of Type 2 Diabetes.
Published in:
Diabetes Care, 2012, v. 35, n. 1, p. 173, doi. 10.2337/dc11-1502
By:
- Il'yasova, Dora;
- Spasojevic, Ivan;
- Base, Karel;
- Haoyue Zhang;
- Wang, Frances;
- Young, Sarah P.;
- Millington, David S.;
- D'agostino Jr., Ralph B.;
- Wagenknecht, Lynne E.
Publication type:
Article
Brain-specific carnitine palmitoyl-transferase-1c: role in CNS fatty acid metabolism, food intake, and body weight.
Published in:
Journal of Neurochemistry, 2008, v. 105, n. 4, p. 1550, doi. 10.1111/j.1471-4159.2008.05255.x
By:
- Wolfgang, Michael J.;
- Cha, Seung Hun;
- Millington, David S.;
- Cline, Gary;
- Shulman, Gerald I.;
- Suwa, Akira;
- Asaumi, Makoto;
- Kurama, Takeshi;
- Shimokawa, Teruhiko;
- Lane, M. Daniel
Publication type:
Article

Found: 24