Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Walla Al‐Hertani"'
Autor:
Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101385- (2024)
Externí odkaz:
https://doaj.org/article/dc3764e5ff4e49c6bda982c9b948cc22
Autor:
Emma Golden, Raquel van Gool, Mariesa Cay, Benjamin Goodlett, Amanda Cao, Walla Al-Hertani, Jaymin Upadhyay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Niemann–Pick disease type C (NPC) is a rare inherited lysosomal storage disease typified by accumulation of cholesterol and other lipids in late endosomes/lysosomes, thereby resulting in a spectrum of neurological, psychiatric,
Externí odkaz:
https://doaj.org/article/9089a99206904a39b95b0c6efd622b75
Autor:
Amanda Cao, Raquel van Gool, Emma Golden, Benjamin Goodlett, Carlos Camelo, Simona Bujoreanu, Walla Al-Hertani, Jaymin Upadhyay
Publikováno v:
Frontiers in Pain Research, Vol 4 (2023)
Pompe disease (PD) is a rare inherited metabolic disorder of deficient or absent acid alpha-glucosidase (GAA), resulting in defective lysosomal glycogen catabolism. Muscle weakness, respiratory deficiency and gastrointestinal symptoms are commonly mo
Externí odkaz:
https://doaj.org/article/5afa2c592be448a2a74fc99d235ec810
Autor:
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may represent an alterna
Externí odkaz:
https://doaj.org/article/9af194b7d7c7450f938a5780e5345a8f
Autor:
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/dd79b4bca7bd44dcb0e04befaa5c0737
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 21-29 (2019)
Abstract We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had glo
Externí odkaz:
https://doaj.org/article/a3ec9cd40ae04e6998401452f6afda73
Autor:
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 55-63 (2017)
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-g
Externí odkaz:
https://doaj.org/article/d1627cb3e24a413c97327ac4fe3dbc0c
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-14 (2017)
Abstract Background Patients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited acce
Externí odkaz:
https://doaj.org/article/38eff2608eda405c97f349c235105974
Autor:
Marisa Chard, Juan Pablo Appendino, Luis E. Bello-Espinosa, Colleen Curtis, Jong M. Rho, Xing-Chang Wei, Walla Al-Hertani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) that presents with childhood developmental delay (especially speech delay), occasionally associated with epileptic enceph
Externí odkaz:
https://doaj.org/article/a85d487815a3431ab5829cd840758038
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neur
Externí odkaz:
https://doaj.org/article/491428c4575e4025934c51504e1fa8ee