Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Helen, Mundy"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101104- (2024)
Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in
Externí odkaz:
https://doaj.org/article/32f54e43788e41bc887af62801f681ab
Autor:
Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101020- (2023)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT
Externí odkaz:
https://doaj.org/article/4b378179f00043a097ba2e977f075d5f
Autor:
Rebecca Halligan, Fiona J. White, Bernd Schwahn, Karolina M. Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy, Saikat Santra
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 52-59 (2021)
Abstract Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across
Externí odkaz:
https://doaj.org/article/90f760d60ce44f528516665b5bb177a9
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Autor:
Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 86-93 (2018)
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carri
Externí odkaz:
https://doaj.org/article/3670bb9d88df4ad19193530872b41183
Autor:
Ulrike Mütze, Florian Gleich, Sven F. Garbade, Céline Plisson, Luis Aldámiz‐Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R. Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi‐Vici, Pavel Ješina, Henk J. Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A. M. Morris, Helen Mundy, Isabelle Redonnet‐Vernhet, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease, 45(4), 719-733. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public p
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:
Nour Elkhateeb, Giorgia Olivieri, Barbara Siri, Karolina M. Stepien, Reena Sharma, Andrew Morris, Thomas Hartley, Laura Crowther, Stephanie Grunewald, Maureen Cleary, Helen Mundy, Anupam Chakrapani, Robin Lachmann, Elaine Murphy, Saikat Santra, Mari-Liis Uudelepp, Mildrid Yeo, Alicia Chan, Philippa Mills, Debora Ridout, Paul Gissen, Carlo Dionisi-Vici, Julien Baruteau
IntroductionArgininosuccinate lyase is integral to the urea cycle, which enables nitrogen waste and biosynthesis of arginine, a precursor of nitric oxide. Inherited argininosuccinate lyase deficiency causes argininosuccinic aciduria, the second most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eacf7d10e5edbca7f30d9a9bc123d580
https://doi.org/10.1101/2022.10.19.22281191
https://doi.org/10.1101/2022.10.19.22281191
Background: Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently been attributed to the accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::482493bd5b4b2a5c3b3e7543710b4e79
https://doi.org/10.21203/rs.3.rs-1260734/v1
https://doi.org/10.21203/rs.3.rs-1260734/v1
Autor:
Roshni Vara, Maesha Deheragoda, Nedim Hadzic, Irene Degrassi, David Creegen, Helen Mundy, Ahlam Mustafa
Publikováno v:
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 53(1)
Background Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable. Aim As the role of liver biopsy is increasingly questioned, we aim to assess its curre