Zobrazeno 1 - 10
of 164
pro vyhledávání: '"Christian J, Hendriksz"'
Autor:
Timothy Nicholas Fazio, Louise Healy, Tim Heise, Anita Inwood, Catherine Manolikos, Yusof Rahman, Hans-Juergen Woerle, Christian J. Hendriksz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101012- (2023)
The cornerstone treatment of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) is a lifelong low-protein diet with phenylalanine (Phe) free L-amino acid supplements. However, the PKU diet has significant shortcomings, and there is a clinically un
Externí odkaz:
https://doaj.org/article/e8398e8fcb364d829a0c08abebf5f4a0
Autor:
Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze, Christina Lampe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly su
Externí odkaz:
https://doaj.org/article/a423c78ffa064dbfada15ea503bc8467
Autor:
Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100646- (2020)
The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis,
Externí odkaz:
https://doaj.org/article/0693708412b94132acfceb32145e99f7
Autor:
Melissa J. Hogan, Kim Stephens, Erin Smith, Elizabeth R. Jalazo, Christian J. Hendriksz, Lloyd J. Edwards, Kendra J. Bjoraker
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100669- (2020)
An outcome measure of toileting skills, the Toileting Abilities Survey or TAS, with sensitivity to detect change in a neurodegenerative disorder such as MPS II, was developed. The TAS was used in a research study of patients (n = 86) with the neurono
Externí odkaz:
https://doaj.org/article/b730f54907194a4f9371b005f2addf2b
Autor:
Mairead McLoughlin, Karolina M. Stepien, Briony McNelly, Lorraine Thompson, Janet Gorton, Christian J. Hendriksz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 111-114 (2017)
Port-a-cath is a widely used device in patients with long-term venous access demand such as frequent or continuous administration of medications such as Enzyme Replacement Therapy (ERT), chemotherapy delivery, blood transfusions, blood products, and
Externí odkaz:
https://doaj.org/article/251f2fd4e10b492e961fe45a4c0e109d
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 71-73 (2018)
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs). This case series describes potential complications associated with long-term TIVAD use
Externí odkaz:
https://doaj.org/article/ddbba806f0f346248ca095390380ac63
Autor:
Jacqueline Adam, Rachel Malone, Sioned Lloyd, Jennifer Lee, Christian J. Hendriksz, Uma Ramaswami
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Introduction: Alpha-mannosidosis is an ultra-rare lysosomal storage disorder resulting from the deficient activity of lysosomal alpha-mannosidase. Alpha-mannosidosis presents as a highly heterogenous condition with large variations in symptom severit
Externí odkaz:
https://doaj.org/article/b3b21590a0ed454f817e30453ffd15b9
Autor:
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0191945 (2018)
To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK.A retrospective chart review was undertaken of patients in the U
Externí odkaz:
https://doaj.org/article/43ebc73578ac475b9c6867c89becb963
Autor:
Nathalie Guffon, Pratima Chowdary, Elisa Leão Teles, Derralynn Hughes, Julia B. Hennermann, Philippe Huot‐Marchand, Elodie Faudot‐Vernier, Olivier Lacombe, Anne Fiquet, Marie‐Paule Richard, Jean‐Louis Abitbol, Mireille Tallandier, Christian J. Hendriksz
Publikováno v:
Journal of Inherited Metabolic Disease. 45:340-352
Mucopolysaccharidosis (MPS) disorders are a group of rare, progressive lysosomal storage diseases characterized by the accumulation of glycosaminoglycans (GAGs) and classified according to the deficient enzyme. Enzyme replacement therapy (ERT) of MPS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52fa76f7d92f85e65eee712b97b6256
https://doi.org/10.1002/jimd.12467
https://doi.org/10.1002/jimd.12467
Autor:
Christian J. Hendriksz, Joseph Muenzer, Adeline Vanderver, Jonathan M. Davis, Barbara K. Burton, Nancy J. Mendelsohn, Nan Wang, Luying Pan, Arian Pano, Ann J. Barbier
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 103-106 (2015)
In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four cl
Externí odkaz:
https://doaj.org/article/88b22d02839a4098a411f02b7d972091