Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Ilkka, Kaitila"'
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are s
Externí odkaz:
https://doaj.org/article/dab00533f4de4002942553916fa65d54
Publikováno v:
Frontiers in endocrinology. 13
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a10cff426707368d5a92186bd04f4a70
https://pubmed.ncbi.nlm.nih.gov/35311234
https://pubmed.ncbi.nlm.nih.gov/35311234
Autor:
Alla Victoroff, Patricia I. Dickson, Paul Harmatz, Anton Mlikotic, Ilkka Kaitila, Merry Passage, Agnes Chen, Jacqueline Madden, Steven Q. Le, David E. Naylor
Publikováno v:
Data in Brief, Vol 5, Iss C, Pp 71-76 (2015)
Data in Brief
Data in Brief
Five subjects with mucopolysaccharidosis type I and symptomatic cervical spinal stenosis received intrathecal laronidase in a 4-month pilot study and/or a 12-month extension study [1]. Clinical descriptions of study subjects, nonserious adverse event
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::501580982505211460a492ece22b94d9
http://www.sciencedirect.com/science/article/pii/S2352340915001602
http://www.sciencedirect.com/science/article/pii/S2352340915001602
Autor:
Anton Mlikotic, Alla Victoroff, Paul Harmatz, Steven Q. Le, Jacqueline Madden, Merry Passage, Patricia I. Dickson, Ilkka Kaitila, David E. Naylor, Agnes Chen
Publikováno v:
Molecular Genetics and Metabolism. 116:69-74
Enzyme replacement therapy with laronidase (recombinant human alpha-l-iduronidase) is successfully used to treat patients with mucopolysaccharidosis type I (MPS I). However, the intravenously-administered enzyme is not expected to treat or prevent ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f84082e0bfc5a6d3e23d9473ec4add
https://doi.org/10.1016/j.ymgme.2015.07.005
https://doi.org/10.1016/j.ymgme.2015.07.005
Autor:
Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
Publikováno v:
Molecular Syndromology. 5:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::728f4d75c99e719eb11cefff35acda4a
https://doi.org/10.1159/000370090
https://doi.org/10.1159/000370090
Autor:
Pierre-Louis Docquier, Anne Dompmartin, Odile Enjolras, Mustapha Amyere, Laurence M. Boon, Vinciane Wouters, Miikka Vikkula, Catherine Godfraind, John B. Mulliken, Ilkka Kaitila
Publikováno v:
Molecular Syndromology. 5:259-267
Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7efd5a83a2efe8d721a014bd6c932f32
https://doi.org/10.1159/000365898
https://doi.org/10.1159/000365898
Autor:
Liisamari Krüger, Hannu Kautiainen, Timo Pohjolainen, Heikki Hurri, Marja Arkela-Kautiainen, Ilkka Kaitila
Publikováno v:
Journal of Rehabilitation Medicine. 45:308-313
Objective The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented. Methods The study sampl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f917bbbe4fdf6c6a43cb52a91d816dc
https://doi.org/10.2340/16501977-1116
https://doi.org/10.2340/16501977-1116
Autor:
Heikki Kröger, Outi Mäkitie, William G. Cole, Renata C. Pereira, Tero Laine, Serap Turan, Murat Bastepe, Harald Jüppner, Ilkka Kaitila
Publikováno v:
Journal of Bone and Mineral Research
Homozygous inactivating mutations in DMP1 (dentin matrix protein 1), the gene encoding a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes, cause autosomal recessive hypophosphatemia (ARHP). Herein we describe a family with A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0356a2800f28d2c6c4c9d96235ae7d57
http://europepmc.org/articles/PMC3153319
http://europepmc.org/articles/PMC3153319
Autor:
Ilkka Kaitila, Christina Raitta
Publikováno v:
Acta Ophthalmologica. 63:175-182
Severe juvenile arteriosclerosis (JAS) is a rare, fatal disease with probably autosomal recessive inheritance. Precocious arterial murmurs and calcification of aorta and major arteries are associated with anaemia, growth retardation, prolonged systol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c0327fb4e5774c94c7d04a4f15b5b03
https://doi.org/10.1111/j.1755-3768.1985.tb01531.x
https://doi.org/10.1111/j.1755-3768.1985.tb01531.x
Publikováno v:
American Journal of Medical Genetics Part A. :2370-2375
Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with short stature, sparse hair and defective cell-mediated immunity. It is caused by mutations in the RMRP (ribonuclease mitochondrial RNA processing) gene, encoding the RNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccfa549c729968ebecafae554f82171c
https://doi.org/10.1002/ajmg.a.32478
https://doi.org/10.1002/ajmg.a.32478