Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Lina Ghaloul-Gonzalez"'
Autor:
Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Transport and Golgi Organization protein 2 Homolog (TANGO2)-related disease is an autosomal recessive disorder caused by mutations in the TANGO2 gene. Symptoms typically manifest in early childhood and include developmental delay, stress-ind
Externí odkaz:
https://doaj.org/article/bbd84a9f628544dc9e3cb0595985fc6f
Autor:
Peter Nelson, Cate Walsh Vockley, Georgianne Arnold, Jirair Bedoyan, Amina Kunovac, Lindsey Kelly, Dara Kozak, Alexander Yatsenko, Jennifer Atkinson, Adrian Lee, Daniel Bellissimo, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100285- (2023)
Externí odkaz:
https://doaj.org/article/36553b7314034c7c880095f365d79d25
Autor:
Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100936- (2022)
Propionic acidemia (PA) in the Amish is caused by a homozygous pathogenic variant (c.1606A>G; p.Asn536Asp) in the PCCB gene. Amish patients can have borderline or normal newborn screening (NBS) results and symptoms can present at any time from early
Externí odkaz:
https://doaj.org/article/46a41536862d448d9beb397b376e26f7
Autor:
Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100932- (2022)
Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the ITCH gene. It is characterized by failure to thrive, dysmorphic facial features, developmental delay, and systemic a
Externí odkaz:
https://doaj.org/article/9763ee3b6cd345f3adadf389b4604dbf
Publikováno v:
SAGE Open Medical Case Reports, Vol 9 (2021)
Variants in CAMK2-associated genes have recently been implicated in neurodevelopmental disorders and intellectual disability. The clinical manifestations reported in patients with mutations in these genes include intellectual disability (ranging from
Externí odkaz:
https://doaj.org/article/4d55d3b7f63a4b6ebab8daa795d2f2fe
Autor:
Erik A. Koppes, Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul-Gonzalez, Megan E. Yates, Dale W. Lewis, Susanne M. Gollin, Yijen L. Wu, Shawn E. Christ, Martine Yerle, Angela Leshinski, Lee D. Spate, Joshua A. Benne, Stephanie L. Murphy, Melissa S. Samuel, Eric M. Walters, Sarah A. Hansen, Kevin D. Wells, Uta Lichter-Konecki, Robert A. Wagner, Joseph T. Newsome, Steven F. Dobrowolski, Jerry Vockley, Randall S. Prather, Robert D. Nicholls
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleteri
Externí odkaz:
https://doaj.org/article/25a4c7bc5404441d96bc2b097f4c68db
Autor:
Marta W. Szulik, Miguel Reyes-Múgica, Daniel F. Marker, Ana M. Gomez, Matthew D. Zinn, Leslie K. Walsh, Juan Pablo Ochoa, Sarah Franklin, Lina Ghaloul-Gonzalez
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 659
Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting hy
Autor:
Kate F. Kernan, Robert A. Berg, J. Michael Dean, Murray M. Pollack, Mark W. Hall, Jerry Vockley, Timothy T. Cornell, Allan Doctor, Daniel A. Notterman, Debborah Hollingshead, Richard Holubkov, Joseph A. Carcillo, Hyun Jung Park, Russel Banks, Athena F. Zuppa, Uma R. Chandran, John C. Lin, Janette Lamb, Lina Ghaloul-Gonzalez, Tom Shanley, Rahil Sethi, Ron W Reeder, Kathleen L. Meert, David L. Wessel, Christopher J. L. Newth, Rick Harrison
Publikováno v:
Journal of Clinical Immunology
Purpose Our understanding of inborn errors of immunity is increasing; however, their contribution to pediatric sepsis is unknown. Methods We used whole-exome sequencing (WES) to characterize variants in genes related to monogenic immunologic disorder
Publikováno v:
Pediatric Reports, Vol 9, Iss 4 (2017)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant manage
Externí odkaz:
https://doaj.org/article/ae2f7f3087084c678eca259333f46613
Autor:
Lina Ghaloul-Gonzalez, Sivakama S. Bharathi, Jerry Vockley, Anuradha Karunanidhi, Eric S. Goetzman, Manuel Schiff, Yudong Wang, Andrew Sinsheimer, Yijen L. Wu, Kailyn Bloom, Al-Walid Mohsen
Publikováno v:
Mol Genet Metab
Acyl CoA Dehydrogenase 9 (ACAD9) is a member of the family of flavoenzymes that catalyze the dehydrogenation of acyl-CoAs to 2,3 enoyl-CoAs in mitochondrial fatty acid oxidation (FAO). Inborn errors of metabolism of all family members, including ACAD