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Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann- Pick disease type C.
Published in:
European Journal of Immunology, 2012, v. 42, n. 7, p. 1886, doi. 10.1002/eji.201141821
By:
- Speak, Anneliese O.;
- Platt, Nicholas;
- Salio, Mariolina;
- te Vruchte, Danielle;
- Smith, David A.;
- Shepherd, Dawn;
- Veerapen, Natacha;
- Besra, Gurdyal S.;
- Yanjanin, Nicole M.;
- Simmons, Louise;
- Imrie, Jackie;
- Wraith, James E.;
- Lachmann, Robin H.;
- Hartung, Ralf;
- Runz, Heiko;
- Mengel, Eugen;
- Beck, Michael;
- Hendriksz, Christian J.;
- Porter, Forbes D.;
- Cerundolo, Vincenzo
Publication type:
Article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
Published in:
2014
By:
- te Vruchte, Danielle;
- Speak, Anneliese O;
- Wallom, Kerri L;
- Al Eisa, Nada;
- Smith, David A;
- Hendriksz, Christian J;
- Simmons, Louise;
- Lachmann, Robin H;
- Cousins, Alison;
- Hartung, Ralf;
- Mengel, Eugen;
- Runz, Heiko;
- Beck, Michael;
- Amraoui, Yasmina;
- Imrie, Jackie;
- Jacklin, Elizabeth;
- Riddick, Kate;
- Yanjanin, Nicole M;
- Wassif, Christopher A;
- Rolfs, Arndt
Publication type:
journal article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1320, doi. 10.1172/JCI72835
By:
- te Vruchte, Danielle;
- Speak, Anneliese O.;
- Wallom, Kerri L.;
- Al Eisa, Nada;
- Smith, David A.;
- Hendriksz, Christian J.;
- Simmons, Louise;
- Lachmann, Robin H.;
- Cousins, Alison;
- Hartung, Ralf;
- Mengel, Eugen;
- Runz, Heiko;
- Beck, Michael;
- Amraoui, Yasmina;
- Imrie, Jackie;
- Jacklin, Elizabeth;
- Riddick, Kate;
- Yanjanin, Nicole M.;
- Wassif, Christopher A.;
- Rolfs, Arndt
Publication type:
Article
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02700-x
By:
- Lachmann, Robin H.;
- Diaz, George A.;
- Wasserstein, Melissa P.;
- Armstrong, Nicole M.;
- Yarramaneni, Abhimanyu;
- Kim, Yong;
- Kumar, Monica
Publication type:
Article
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Published in:
2022
By:
- Hennis, Philip J.;
- Murphy, Elaine;
- Meijer, Rick I.;
- Lachmann, Robin H.;
- Ramachandran, Radha;
- Bordoli, Claire;
- Rayat, Gurinder;
- Tomlinson, David J.
Publication type:
journal article
In-depth phenotyping for clinical stratification of Gaucher disease.
Published in:
2021
By:
- D'Amore, Simona;
- Page, Kathleen;
- Donald, Aimée;
- Taiyari, Khadijeh;
- Tom, Brian;
- Deegan, Patrick;
- Tan, Chong Y.;
- Poole, Kenneth;
- Jones, Simon A.;
- Mehta, Atul;
- Hughes, Derralynn;
- Sharma, Reena;
- Lachmann, Robin H.;
- Chakrapani, Anupam;
- Geberhiwot, Tarekegn;
- Santra, Saikat;
- Banka, Siddarth;
- Cox, Timothy M.;
- the MRC GAUCHERITE Consortium;
- Cox, T. M.
Publication type:
journal article
Glucocerebrosidase mutations in clinical and pathologically proven Parkinsons disease.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1783, doi. 10.1093/brain/awp044
By:
- Neumann, Juliane;
- Bras, Jose;
- Deas, Emma;
- OSullivan, Sean S.;
- Parkkinen, Laura;
- Lachmann, Robin H.;
- Li, Abi;
- Holton, Janice;
- Guerreiro, Rita;
- Paudel, Reema;
- Segarane, Badmavady;
- Singleton, Andrew;
- Lees, Andrew;
- Hardy, John;
- Houlden, Henry;
- Revesz, Tamas;
- Wood, Nicholas W.
Publication type:
Article
Lost in translation—Challenges in drug development for inherited metabolic diseases.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 381, doi. 10.1002/jimd.12501
By:
- Lachmann, Robin H.;
- Patterson, Marc C.;
- Sirrs, Sandra
Publication type:
Article
Treating lysosomal storage disorders: What have we learnt?
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 125, doi. 10.1002/jimd.12131
By:
- Lachmann, Robin H.
Publication type:
Article
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 451, doi. 10.1002/jimd.12054
By:
- Kuiper, Anouk;
- Grünewald, Stephanie;
- Murphy, Elaine;
- Coenen, Maraike A.;
- Eggink, Hendriekje;
- Zutt, Rodi;
- Rubio‐Gozalbo, Maria E.;
- Bosch, Annet M.;
- Williams, Monique;
- Derks, Terry G. J.;
- Lachmann, Robin H. L.;
- Brouwers, Martijn C. G. J.;
- Janssen, Mirian C. H.;
- Tijssen, Marina A.;
- de Koning, Tom J.
Publication type:
Article
The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 209, doi. 10.1002/jimd.12065
By:
- Burlina, Alessandro P.;
- Lachmann, Robin H.;
- Manara, Renzo;
- Cazzorla, Chiara;
- Celato, Andrea;
- van Spronsen, Francjan J.;
- Burlina, Alberto
Publication type:
Article
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 865, doi. 10.1007/s10545-018-0147-6
By:
- Chesher, Douglas;
- Oddy, Michael;
- Darbar, Ulpee;
- Sayal, Parag;
- Casey, Adrian;
- Ryan, Aidan;
- Sechi, Annalisa;
- Simister, Charlotte;
- Waters, Aoife;
- Wedatilake, Yehani;
- Lachmann, Robin H.;
- Murphy, Elaine
Publication type:
Article
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 829, doi. 10.1007/s10545-017-0123-6
By:
- Wasserstein, Melissa P.;
- Diaz, George A.;
- Lachmann, Robin H.;
- Jouvin, Marie-Hélène;
- Nandy, Indrani;
- Ji, Allena J.;
- Puga, Ana Cristina
Publication type:
Article
Herpes simplex virus-based vectors.
Published in:
International Journal of Experimental Pathology, 2004, v. 85, n. 4, p. 177, doi. 10.1111/j.0959-9673.2004.00383.x
By:
- Lachmann, Robin H.
Publication type:
Article
Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.
Published in:
Calcified Tissue International, 2022, v. 111, n. 4, p. 409, doi. 10.1007/s00223-022-01006-7
By:
- Brandi, Maria Luisa;
- Jan de Beur, Suzanne;
- Briot, Karine;
- Carpenter, Thomas;
- Cheong, Hae Il;
- Cohen-Solal, Martine;
- Crowley, Rachel K.;
- Eastell, Richard;
- Imanishi, Yasuo;
- Imel, Erik A.;
- Ing, Steven W.;
- Insogna, Karl;
- Ito, Nobuaki;
- Javaid, Kassim;
- Kamenicky, Peter;
- Keen, Richard;
- Kubota, Takuo;
- Lachmann, Robin H.;
- Perwad, Farzana;
- Pitukcheewanont, Pisit
Publication type:
Article
A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis.
Published in:
Journal of Bone & Mineral Research, 2018, v. 33, n. 8, p. 1383, doi. 10.1002/jbmr.3475
By:
- Insogna, Karl L.;
- Briot, Karine;
- Imel, Erik A.;
- Kamenický, Peter;
- Ruppe, Mary D.;
- Portale, Anthony A.;
- Weber, Thomas;
- Pitukcheewanont, Pisit;
- Cheong, Hae Il;
- Jan de Beur, Suzanne;
- Imanishi, Yasuo;
- Ito, Nobuaki;
- Lachmann, Robin H.;
- Tanaka, Hiroyuki;
- Perwad, Farzana;
- Zhang, Lin;
- Chen, Chao‐Yin;
- Theodore‐Oklota, Christina;
- Mealiffe, Matt;
- San Martin, Javier
Publication type:
Article
Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review.
Published in:
Movement Disorders, 2012, v. 27, n. 14, p. 1769, doi. 10.1002/mds.25229
By:
- Rubio-Agusti, Ignacio;
- Kojovic, Maja;
- Edwards, Mark J.;
- Murphy, Elaine;
- Chandrashekar, Hoskote S.;
- Lachmann, Robin H.;
- Bhatia, Kailash P.
Publication type:
Article

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