Publications by authors named "Gerard Berry"

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The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.
E Naomi Vos, Didem Demirbas, Lance Rodan, Edward Yang, Sanjay P Prabhu, Gerard T Berry

Ann Child Neurol Soc· August 2025

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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Sanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, Fernando Scaglia, Seishu Horikoshi, Gerard Berry

Mol Genet Metab· May 2025

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Orthotopic Liver Transplantation in a Patient With p.Ser135Leu/Null.
Kara Simpson, Erin L MacLeod, Julia Clayton, Nada A Yazigi, M Estela Rubio-Gozalbo, Gerard T Berry

JIMD Rep· May 2025

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Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
M Estela Rubio-Gozalbo, E Naomi Vos, Isabel Rivera, Kent Lai, Gerard T Berry

J Inherit Metab Dis· March 2025

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Phenylketonuria in adults: we know plenty, but there is much more to learn.
Cary O Harding, Georgianne Arnold, Gerard T Berry, Shawn E Christ, Dorothy K Grange

Am J Clin Nutr· March 2025

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Health and well-being of maturing adults with classic galactosemia.
Olivia S Garrett, Jared J Druss, E Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Gerard T Berry

J Inherit Metab Dis· January 2025

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The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones.
Chen-Han Wilfred Wu, Ishita Patel, Katreya Lovrenert, Brian Eisner, Naomi Meeks, Gerard Berry

Genet Med· January 2025

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Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency.
Shawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, Gerard T Berry, Dorothy K Grange

Mol Genet Metab· October 2024

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou

Mol Genet Metab· August 2024

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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Irini Manoli, Justin R Sysol, PamelaSara E Head, Madeline W Epping, Oksana Gavrilova, Gerard T Berry

JCI Insight· February 2024

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Bianca Panis, E Naomi Vos, Ivo Barić, Annet M Bosch, Martijn C G J Brouwers, Gerard T Berry

Front Genet· February 2024

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Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
Xinying Hong, Andrew C Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard Berry

Mol Genet Metab· November 2023

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The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
E Naomi Vos, Didem Demirbas, Matthew Mangel, M Estela Rubio-Gozalbo, Harvey L Levy, Gerard T Berry

Mol Genet Metab· November 2023

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Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
Jerry Vockley, Barbara K Burton, Gerard Berry, Nicola Longo, John Phillips

J Inherit Metab Dis· September 2023

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The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Gerard T Berry

Hum Reprod Update· March 2023

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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Quinton S Katler, Karolina M Stepien, Nathan Paull, Sneh Patel, Michael Adams, Gerard T Berry

J Inherit Metab Dis· November 2022

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Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.
Judith L Fridovich-Keil, Gerard T Berry

Mol Genet Metab· October 2022

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A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Boxun Zhao, Jill A Madden, Jasmine Lin, Gerard T Berry, Monica H Wojcik

Eur J Hum Genet· September 2022

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Galactose epimerase deficiency: lessons from the GalNet registry.
Britt Derks, Didem Demirbas, Rodrigo R Arantes, Samantha Banford, Alberto B Burlina, Gerard T Berry

Orphanet J Rare Dis· September 2022

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Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Sanda Alexandrescu, Erin Plews-Ogan, Gerard T Berry

Genet Med· April 2022

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The development of end stage renal disease in two patients with PMM2-CDG.
Henna Tiwary, Leah E Hecht, William J Brucker, Gerard T Berry, Nancy M Rodig

JIMD Rep· March 2022

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Transient developmental delays in infants with Duarte-2 variant galactosemia.
Susan E Waisbren, Catherine Tran, Didem Demirbas, Cynthia S Gubbels, Margaret Hsiao, Gerard T Berry

Mol Genet Metab· February 2022

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Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome.
Mandeep Rana, Karen Cuttin, Gerard T Berry, Alcy Torres

JIMD Rep· November 2021

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A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.
Deena Godfrey, Alcy Torres, Gena Heidary, Hovra Zahoor, Arthur Lee, Gerard Berry

Ophthalmic Genet· October 2021

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[C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Can Ficicioglu, Didem Demirbas, Britt Derks, G Shashidhar Pai, David J Timson, Gerard T Berry

JIMD Rep· May 2021

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