OpenURL Connection Search

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

Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
2015
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W;
- Burlina, Alberto;
- Ruiter, Jos P N;
- Coughlin 2nd, Curtis R;
- Dishop, Megan K;
- Gallagher, Renata C;
- Bedoyan, Jirair K;
- Vaz, Frédéric M;
- Waterham, Hans R;
- Gowan, Katherine;
- Chatfield, Kathryn;
- Bloom, Kaitlyn;
- Bennett, Michael J;
- Elpeleg, Orly;
- Van Hove, Johan L K;
- Wanders, Ronald J A;
- Coughlin, Curtis R 2nd
Publication type:
journal article
Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618.
Published in:
2016
By:
- Swanson, Michael A.;
- Coughlin, Curtis R.;
- Hove, Johan L. K.;
- Coughlin, Curtis R Jr;
- Van Hove, Johan L K
Publication type:
corrected article
Pyridoxine-dependent epilepsy is more than just epilepsy.
Published in:
2020
By:
- Coughlin, Curtis R;
- Coughlin, Curtis R 2nd
Publication type:
journal article
Defining the Critical Components of Informed Consent for Genetic Testing.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1304, doi. 10.3390/jpm11121304
By:
- Ormond, Kelly E.;
- Borensztein, Maia J.;
- Hallquist, Miranda L. G.;
- Buchanan, Adam H.;
- Faucett, William Andrew;
- Peay, Holly L.;
- Smith, Maureen E.;
- Tricou, Eric P.;
- Uhlmann, Wendy R.;
- Wain, Karen E.;
- Coughlin II, Curtis R.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, Curtis R.;
- Dishop, Megan K.;
- Gallagher, Renata C.;
- Bedoyan, Jirair K.;
- Vaz, Frédéric M.;
- Waterham, Hans R.;
- Gowan, Katherine;
- Chatfield, Kathryn;
- Bloom, Kaitlyn;
- Bennett, Michael J.;
- Elpeleg, Orly;
- Van Hove, Johan L. K.;
- Wanders, Ronald J. A.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, Curtis R.;
- Dishop, Megan K.;
- Gallagher, Renata C.;
- Bedoyan, Jirair K.;
- Vaz, Frédéric M.;
- Waterham, Hans R.;
- Gowan, Katherine;
- Chatfield, Kathryn;
- Bloom, Kaitlyn;
- Bennett, Michael J.;
- Elpeleg, Orly;
- Van Hove, Johan L. K.;
- Wanders, Ronald J. A.
Publication type:
Article
Dietary management for pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 188, doi. 10.1002/jmd2.12418
By:
- Dixon, Marjorie;
- Millington, Chloe;
- Bernstein, Laurie;
- Coughlin II, Curtis R.;
- Drumm, Morgan;
- Gaughan, Sommer;
- van Karnebeek, Clara D. M.;
- van Wegberg, Annemiek M. J.
Publication type:
Article
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Published in:
2015
By:
- Swanson, Michael A.;
- Coughlin, Curtis R.;
- Scharer, Gunter H.;
- Szerlong, Heather J.;
- Bjoraker, Kendra J.;
- Spector, Elaine B.;
- Creadon‐Swindell, Geralyn;
- Mahieu, Vincent;
- Matthijs, Gert;
- Hennermann, Julia B.;
- Applegarth, Derek A.;
- Toone, Jennifer R.;
- Tong, Suhong;
- Williams, Kristina;
- Van Hove, Johan L. K.
Publication type:
journal article
Is it time to start to consider treating the liver in glutaric aciduria type 1?
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 539, doi. 10.1002/jimd.12623
By:
- Houten, Sander;
- Coughlin, Curtis R.
Publication type:
Article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
By:
- Coughlin, Curtis R.;
- Tseng, Laura A.;
- Abdenur, Jose E.;
- Ashmore, Catherine;
- Boemer, François;
- Bok, Levinus A.;
- Boyer, Monica;
- Buhas, Daniela;
- Clayton, Peter T.;
- Das, Anibh;
- Dekker, Hanka;
- Evangeliou, Athanasios;
- Feillet, François;
- Footitt, Emma J.;
- Gospe, Sidney M.;
- Hartmann, Hans;
- Kara, Majdi;
- Kristensen, Erle;
- Lee, Joy;
- Lilje, Rina
Publication type:
Article
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1024, doi. 10.1002/jimd.12232
By:
- Friederich, Marisa W.;
- Elias, Abdallah F.;
- Kuster, Alice;
- Laugwitz, Lucia;
- Larson, Austin A.;
- Landry, Aaron P.;
- Ellwood‐Digel, Logan;
- Mirsky, David M.;
- Dimmock, David;
- Haven, Jaclyn;
- Jiang, Hua;
- MacLean, Kenneth N.;
- Styren, Katie;
- Schoof, Jonathan;
- Goujon, Louise;
- Lefrancois, Thomas;
- Friederich, Maike;
- Coughlin, Curtis R.;
- Banerjee, Ruma;
- Haack, Tobias B.
Publication type:
Article
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 438, doi. 10.1002/jimd.12072
By:
- Stence, Nicholas V.;
- Fenton, Laura Z.;
- Levek, Claire;
- Tong, Suhong;
- Coughlin, Curtis R.;
- Hennermann, Julia B.;
- Wortmann, Saskia B.;
- Van Hove, Johan L.K.
Publication type:
Article
Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 565, doi. 10.1002/jimd.12059
By:
- Wempe, Michael F.;
- Kumar, Amit;
- Kumar, Vijay;
- Choi, Yu J.;
- Swanson, Michael A.;
- Friederich, Marisa W.;
- Hyland, Keith;
- Yue, Wyatt W.;
- Van Hove, Johan L. K.;
- Coughlin, Curtis R.
Publication type:
Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
By:
- Coughlin, Curtis R.;
- Swanson, Michael A.;
- Spector, Elaine;
- Meeks, Naomi J. L.;
- Kronquist, Kathryn E.;
- Aslamy, Mezhgan;
- Wempe, Michael F.;
- van Karnebeek, Clara D. M.;
- Gospe, Sidney M.;
- Aziz, Verena G.;
- Tsai, Becky P.;
- Gao, Hanlin;
- Nagy, Peter L.;
- Hyland, Keith;
- van Dooren, Silvy J. M.;
- Salomons, Gajja S.;
- Van Hove, Johan L. K.
Publication type:
Article
Genotype–phenotype correlations: sudden death in an infant with very‐long‐chain acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 129, doi. 10.1007/s10545-009-9041-6
By:
- Coughlin, II, Curtis R.;
- Ficicioglu, Can
Publication type:
Article
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 4, p. 702, doi. 10.1093/hmg/ddw431
By:
- Friederich, Marisa W.;
- Erdogan, Alican J.;
- Coughlin II, Curtis R.;
- Elos, Mihret T.;
- Hua Jiang;
- O'Rourke, Courtney P.;
- Lovell, Mark A.;
- Wartchow, Eric;
- Gowan, Katherine;
- Chatfield, Kathryn C.;
- Chick, Wallace S.;
- Spector, Elaine B.;
- Van Hove, Johan L. K.;
- Riemer, Jan
Publication type:
Article
Genomic regions associated with microdeletion/ microduplication syndromes exhibit extreme diversity of structural variation.
Published in:
Genetics, 2021, v. 217, n. 2, p. 1, doi. 10.1093/genetics/iyaa038
By:
- Mostovoy, Yulia;
- Yilmaz, Feyza;
- Chow, Stephen K.;
- Chu, Catherine;
- Lin, Chin;
- Geiger, Elizabeth A.;
- Meeks, Naomi J. L.;
- Chatfield, Kathryn C.;
- Coughlin II, Curtis R.;
- Surti, Urvashi;
- Kwok, Pui-Yan;
- Shaikh, Tamim H.
Publication type:
Article
A case for newborn screening for pyridoxine-dependent epilepsy.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006197
By:
- Coughlin II, Curtis R.;
- Tseng, Laura A.;
- van Karnebeek, Clara D. M.
Publication type:
Article
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.
Published in:
Nutrients, 2020, v. 12, n. 10, p. 3162, doi. 10.3390/nu12103162
By:
- Bernstein, Laurie;
- Coughlin, Curtis R.;
- Drumm, Morgan;
- Yannicelli, Steven;
- Rohr, Fran
Publication type:
Article

Found: 19