Zobrazeno 1 - 10
of 166
pro vyhledávání: '"Christian J Hendriksz"'
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:
Kirsten E McKay, Christopher K Bruce, Jane L Hartley, A S Knisely, Ulrich Baumann, Sonja-Stephanie Bockisch, Ekkehard Sturm, Christian J Hendriksz, Deidre A Kelly, Fiona Macdonald, Paul Gissen
Publikováno v:
F1000Research, Vol 2 (2013)
Background: Neonatal cholestasis is a common presentation of childhood liver diseases and can be a feature of various conditions including disorders of bile acid biogenesis and transport, various inborn errors of metabolism and perinatal infections.
Externí odkaz:
https://doaj.org/article/41f9d54566c74216b7912aa6f5037d09
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:
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
Autor:
Christian J. Hendriksz, Jane Ashworth, Ana Jovanovic, Neil J. Oxbarrow, Ankur Saxena, Chaitanya Gadepalli, Michael Rothera, Petra Jenkins, Peter Wolfson, Andrew Oldham, Govind Tol
Publikováno v:
SSRN Electronic Journal.
Autor:
C. Lloyd, Deirdre Kelly, Kirsten McKay Bounford, Christian J. Hendriksz, Fiona MacDonald, Nicola Ruth, Ulrich Baumann, Rebecca Jeyaraj, Paul Gissen
Publikováno v:
Genes
Genes, Vol 12, Iss 1837, p 1837 (2021)
Genes, Vol 12, Iss 1837, p 1837 (2021)
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also
Publikováno v:
Journal of Inherited Metabolic Disease. 42:1136-1146
Urea cycle disorders (UCD) are a group of rare inherited metabolic conditions of amino acid catabolism caused by an enzyme deficiency within the hepatic ammonia detoxification pathway. The presentation of these disorders ranges from life-threatening
Autor:
Christian J. Hendriksz, Yann Nadjar, Matthis Synofzik, Marc C. Patterson, Peter Bauer, Thomas Klopstock, Tom J. de Koning, María-Jesús Sobrido
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14, pp.20. ⟨10.1186/s13023-018-0985-1⟩
Orphanet journal of rare diseases 14(1), 20 (2019). doi:10.1186/s13023-018-0985-1
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14, pp.20. ⟨10.1186/s13023-018-0985-1⟩
Orphanet journal of rare diseases 14(1), 20 (2019). doi:10.1186/s13023-018-0985-1
Background Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to i
Autor:
Engela H Conradie, Helen Louise Malherbe, Christian J Hendriksz, Marli Dercksen, Barend Christiaan Vorster
Publikováno v:
Biopreservation and biobanking. 19(2)
The North-West University's Centre for Human Metabolomics (CHM) is in the process of establishing the first rare disease (RD) biobank in South Africa and Africa. The CHM Biobank's main focus is on the collection of samples and information for rare co
Autor:
Elizabeth Jalazo, Erin Smith, Christian J. Hendriksz, Kendra J. Bjoraker, Melissa J. Hogan, Kim J. Stephens, Lloyd J. Edwards
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100669-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
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