Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Autor: Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

Publikováno v: JIMD Reports, Vol 64, Iss 5, Pp 337-345 (2023)

Abstract Contiguous ABCD1/ DXS1357E deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E). Only nine individuals with this diagnosis have been reported in the medic

Externí odkaz: https://doaj.org/article/c3de6f8578104d98b093177a3ac08883

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

Autor: Carolyn Bursle, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee

Publikováno v: JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)

Abstract We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound

Externí odkaz: https://doaj.org/article/409271ae6f594e76bb062158b9a17b88

MOGS-CDG: Quantitative analysis of the diagnostic Glc(3) Man tetrasaccharide and clinical spectrum of six new cases

Autor: Merel A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito‐Lee, Beom Hee Lee, Karen J. Low, Andrew A. Mallick, Katrin Õunap, James Pitt, William Reardon, Mari‐Anne Vals, Saskia B. Wortmann, Hans J. C. T. Wessels, Melissa Bärenfänger, Clara D. M. van Karnebeek, Dirk J. Lefeber

Publikováno v: Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325

Contains fulltext : 290862.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N-glycosylation can b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a64c83a950f9dae5040a71acac3150
https://hdl.handle.net/2066/290862

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy

Autor: Tiong Yang Tan, Sarah Donoghue, Eva Morava, Joy Yaplito-Lee, Susan M. White, Remi Kowalski

Publikováno v: JIMD Reports

We report a patient diagnosed with PGM1‐CDG at 11 years of age after two biallelic likely pathogenic variants in PGM1 were found on research genomic sequencing. To our knowledge, he is the first patient with PGM1‐CDG to be reported with a restric

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2063efad1f5a36e62300e8b0ce6b89c
https://doi.org/10.1002/jmd2.12177

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Autor: Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 986, p 986 (2022)
International Journal of Molecular Sciences

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-residing protein and is reported to regulate mitochondrial function. The clinical importance of PYROXD2 has been unclear,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a156b615fbe902257475a49a412ff8
https://www.mdpi.com/1422-0067/23/2/986