Zobrazeno 1 - 10
of 25
pro vyhledávání: '"M J, Coll"'
Publikováno v:
JIMD Reports ISBN: 9783662536803
Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edaf6f9ca10aafa3320d3361c66f0f4c
https://pubmed.ncbi.nlm.nih.gov/26920906
https://pubmed.ncbi.nlm.nih.gov/26920906
Publikováno v:
Clinical Genetics. 67:418-424
In this study, we analyzed the ABCD1 gene in 80 X-linked adrenoleukodystrophy (X-ALD) patients from 62 unrelated families. We identified 53 different mutations, of which 26 are novel and two are non-pathogenic sequence variants (L516L and 3'UTR, 2246
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a448bc6210e0e8d72bc9b6461853b9f2
https://doi.org/10.1111/j.1399-0004.2005.00423.x
https://doi.org/10.1111/j.1399-0004.2005.00423.x
Autor:
Magdalena Ugarte, A. Martinez Bermejo, Montserrat Ruiz, Begoña Merinero, M. J. Coll, A. Ribes, C. Busquets
Publikováno v:
Prenatal Diagnosis. 20:761-764
Various biochemical strategies are followed for the prenatal diagnosis of glutaric aciduria type I (GA I). However, since the description of patients with normal excretion of glutarate and significant residual activity, the difficulties of prenatal b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8676f03362e227b0e75f62ea961cde98
https://doi.org/10.1002/1097-0223(200009)20:9<761::aid-pd894>3.0.co
https://doi.org/10.1002/1097-0223(200009)20:9<761::aid-pd894>3.0.co
Publikováno v:
American Journal of Medical Genetics. 76:424-427
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal beta-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::289b2d004170132130fbf2b95ba2e659
https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<424::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<424::aid-ajmg11>3.0.co
Publikováno v:
Prenatal Diagnosis. 17:651-656
X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal beta-oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a1768d83d4fcf9e99f6d8f9ba6307e1
https://doi.org/10.1002/(sici)1097-0223(199707)17:7<651::aid-pd131>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199707)17:7<651::aid-pd131>3.0.co
Autor:
P Quijada, Fraile, E Martín, Hernández, A, Martínez de Aragón, J, Macias-Vidal, M J, Coll, A Nogales, Espert, M T García, Silva
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 73(5)
Niemann-Pick type C is a lysosomal storage disorder caused by a defect in intracellular trafficking of cholesterol. It is a rare disease, usually caused by mutations in NPC1 gene, but in some cases by mutations in NPC2 gene. Usually it is present in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::af5485d79e8d828ee3ce911d7f0cbd27
https://pubmed.ncbi.nlm.nih.gov/20826119
https://pubmed.ncbi.nlm.nih.gov/20826119
Autor:
J, López-Pisón, R, Pérez-Delgado, A, García-Oguiza, M, Lafuente-Hidalgo, M, García-Jiménez, M L, Calvo-Ruata, J L, Peña-Segura, V, Rebage, M, Girós-Blasco, M J, Coll, A, Baldellou-Vázquez
Publikováno v:
Revista de neurologia. 47(1)
The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction.We revi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1b8c465cca3db23053a791e04560a59
https://pubmed.ncbi.nlm.nih.gov/18592472
https://pubmed.ncbi.nlm.nih.gov/18592472
Autor:
E M, Fernandez-Valero, A, Ballart, C, Iturriaga, M, Lluch, J, Macias, M T, Vanier, M, Pineda, M J, Coll
Publikováno v:
Clinical genetics. 68(3)
To better characterize Niemann-Pick type C (NPC) in Spain and improve genetic counselling, molecular analyses were carried out in 40 unrelated Spanish patients. The search identified 70/80 alleles (88%) involving 38 different NPC1 mutations, 26 of wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db22d792e7194473e5454bc363293d22
https://pubmed.ncbi.nlm.nih.gov/16098014
https://pubmed.ncbi.nlm.nih.gov/16098014
Autor:
O, Sardón, C, García Pardos, J, Mintegui, E, Pérez Ruiz, M J, Coll, A, Chabás, T, Olivé, A, Ruiz Benito
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 63(1)
We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant alpha-L-iduronidase for 452 and 28 weeks respectively.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::20ff2461082535f172cc283e83b5d2d1
https://pubmed.ncbi.nlm.nih.gov/15989873
https://pubmed.ncbi.nlm.nih.gov/15989873
Autor:
Amaro García-Díez, M J Coll, J Sánchez-Pérez, Jesús Fernández-Herrera, A Chabás, E Vargas-Díez
Publikováno v:
The British journal of dermatology. 147(4)
Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a529634568f24978c57b5c4f57a504
https://pubmed.ncbi.nlm.nih.gov/12366426
https://pubmed.ncbi.nlm.nih.gov/12366426