Publications by authors named "Bryan Hainline"

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Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
Rana Aljaberi, Lindsay Romo, Reuven Zev Cohen, Taeylor Mellor, Madeline Steffensen, Bryan Hainline

Am J Med Genet A· January 2026

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Bryan E Hainline

Genet Med· February 2024

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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
M Laura Duque Lasio, Angela C Leshinski, Nicole H Ducich, Leigh Anne Flore, April Lehman, Bryan E Hainline

Mol Genet Metab· June 2023

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Bryan E Hainline

Am J Hum Genet· April 2022

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Lindsey D Goodman, Heidi Cope, Zelha Nil, Thomas A Ravenscroft, Wu-Lin Charng, Bryan E Hainline

Am J Hum Genet· September 2021

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt, Bryan E Hainline

Genet Med· May 2021

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Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.
Timothy F Tramontana, Theodore E Wilson, Bryan E Hainline

JIMD Rep· May 2021

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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Nicola Longo, George A Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Bryan Hainline

Mol Genet Metab· January 2021

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Clinical manifestations and management of fatty acid oxidation disorders.
J Lawrence Merritt, Erin MacLeod, Agnieszka Jurecka, Bryan Hainline

Rev Endocr Metab Disord· December 2020

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An atypical case of Canavan disease with stroke-like presentation.
Katherine E Delaney, Stephen F Kralik, Bryan E Hainline, Meredith R Golomb

Pediatr Neurol· February 2015

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Neonatal Graves' disease associated with severe metabolic abnormalities.
Katherine A Lewis, William Engle, Bryan E Hainline, Nancy Johnson, Mark Corkins

Pediatrics· July 2011

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Reverse amblyopia with atropine treatment.
Bryan C Hainline, Derek C Sprunger, David A Plager, Daniel E Neely, Matthew G Guess

Binocul Vis Strabismus Q· April 2011

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1H NMR metabolomics study of age profiling in children.
Haiwei Gu, Zhengzheng Pan, Bowei Xi, Bryan E Hainline, Narasimhamurthy Shanaiah

NMR Biomed· October 2009

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Citrin deficiency, a perplexing global disorder.
David Dimmock, Bruno Maranda, Carlo Dionisi-Vici, Jing Wang, Soledad Kleppe, Bryan Hainline

Mol Genet Metab· January 2009

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Hyperammonemia in the ICU.
Alison S Clay, Bryan E Hainline

Chest· October 2007

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Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced 13C NMR.
Narasimhamurthy Shanaiah, M Aruni Desilva, G A Nagana Gowda, Michael A Raftery, Bryan E Hainline

Proc Natl Acad Sci U S A· July 2007

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Central flap necrosis after LASIK with microkeratome and femtosecond laser created flaps.
Bryan C Hainline, Marianne O Price, David M Choi, Francis W Price

J Refract Surg· March 2007

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Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism.
Zhengzheng Pan, Haiwei Gu, Nari Talaty, Huanwen Chen, Narasimhamurthy Shanaiah, Bryan E Hainline

Anal Bioanal Chem· January 2007

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Pyruvate carboxylase deficiency--insights from liver transplantation.
William L Nyhan, Ajai Khanna, Bruce A Barshop, Robert K Naviaux, Andrew F Precht, Bryan E Hainline

Mol Genet Metab· May 2003

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Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
Georgirene D Vladutiu, Elizabeth J Quackenbush, Bryan E Hainline, Simone Albers, David S Smail

J Pediatr· November 2002

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