George E Hoganson

George E Hoganson

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George E Hoganson

George E Hoganson

Publications by authors named "George E Hoganson"

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

J Pediatr 2017 11 17;190:130-135. Epub 2017 Jul 17.

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.

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http://dx.doi.org/10.1016/j.jpeds.2017.06.048DOI Listing
November 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis.

Chem Asian J 2015 Oct 9;10(10):2221-7. Epub 2015 Sep 9.

Department of Chemistry, University of Illinois at Urbana-Champaign, Urbana, IL, 61801, USA.

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http://dx.doi.org/10.1002/asia.201500642DOI Listing
October 2015

Two novel compound heterozygous mutations in in two siblings with OPA3-related 3-methylglutaconic aciduria.

Mol Genet Metab Rep 2014 Jan;1:114-123

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987911PMC
January 2014

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Mol Genet Metab 2010 Oct-Nov;101(2-3):172-7. Epub 2010 Jul 15.

Division of Hepatology and Gene Therapy, Proteomics Unit, Center for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2010.07.009DOI Listing
January 2011

Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.

Pediatr Neurol 2010 Sep;43(3):205-8

Department of Neurology, Division of Pediatric Neurology, Advocate Christ Medical Center/Hope Children's Hospital, Oak Lawn, Illinois 60453, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.04.008DOI Listing
September 2010