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pro vyhledávání: '"Joe T. R. Clarke"'
Autor:
Joe T. R. Clarke
This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where
Autor:
Joe T. R. Clarke, Sandra Sirrs
Publikováno v:
Expert review of endocrinologymetabolism. 2(2)
Fabry disease is a lysosomal storage disorder that results in neuropathic pain, progressive renal dysfunction, cardiomyopathy and stroke in affected individuals. The disease is caused by mutations in the GLA gene coding for α galactosidase A. The re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce8c124589bdd66f641003c1d708dfb4
https://pubmed.ncbi.nlm.nih.gov/30754174
https://pubmed.ncbi.nlm.nih.gov/30754174
Autor:
Paula J. Waters, Fanny Thuriot, Serge Gravel, David Watkins, Joe T. R. Clarke, Sébastien Lévesque, David S. Rosenblatt
Publikováno v:
Molecular Genetics and Metabolism Reports
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008c444e974f6c956017a7ca4aba3c5b
https://doi.org/10.1016/j.ymgmr.2016.09.001
https://doi.org/10.1016/j.ymgmr.2016.09.001
Autor:
Caroline Silve, Régis Coutant, Giovanna Mantovani, Joe T. R. Clarke, Arrate Pereda, Luisa de Sanctis, Agnès Linglart, Intza Garin, Francesca Elli, Paolo Bordogna, Guiomar Perez de Nanclares, Caroline Kannengiesser, Osnat Admoni, Yardena Tenebaum-Rakover
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 100:E681-E687
Pseudohypoparathyroidism type Ia (PHP1A) is a rare endocrine disorder characterized by hypocalcemia, hyperphosphatemia, multiple hormonal resistance, and features of Albright hereditary osteodystrophy. When the phenotype is present but not associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f12d779075ed14b658eb7f0c598292e8
https://doi.org/10.1210/jc.2014-3098
https://doi.org/10.1210/jc.2014-3098
Autor:
Joe T. R. Clarke
Publikováno v:
CONTINUUM: Lifelong Learning in Neurology. 15:126-146
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b0c9a45f000696a67ba5f25379daffe
https://doi.org/10.1212/01.con.0000348881.16694.41
https://doi.org/10.1212/01.con.0000348881.16694.41
Autor:
Joe T. R. Clarke, Chantal F. Morel
Publikováno v:
Expert Opinion on Biological Therapy. 9:631-639
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A (alpha-Gal A), encoded by the GLA gene. The deficiency causes accumulation of neutral glycosphingolipids in various tissues, leading to neuronopathic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b418e094d06903356787d32173b4c21b
https://doi.org/10.1517/14712590902902296
https://doi.org/10.1517/14712590902902296
Publikováno v:
Journal of Child Neurology. 24:991-996
Ethylmalonic encephalopathy is a recently described inborn error of metabolism characterized clinically by developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. We describe monochorionic twins presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::653273410d70cee3aa81696c8d7f4a58
https://doi.org/10.1177/0883073808331359
https://doi.org/10.1177/0883073808331359
Autor:
Sunqu ZHANG, Richard BAGSHAW, William HILSON, Yuko OHO, Alina HINEK, Joe T. R. CLARKE, Aleksander HINEK, John W. CALLAHAN
Publikováno v:
Biochemical Journal. 348:621-632
We have identified and characterized three missense mutations in a patient with type 1 G(M1) gangliosidosis, namely a substitution of G for A at nucleotide position 1044 (G1044-->A; in exon 10) on one allele, which converts Asp(332) into asparagine,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac81dba3d8688ed21ba845cc11882927
https://doi.org/10.1042/bj3480621
https://doi.org/10.1042/bj3480621
Autor:
Christiane, Gruner, Flavia, Verocai, Shemy, Carasso, Mani A, Vannan, Michael, Jamorski, Joe T R, Clarke, Melanie, Care, Robert M, Iwanochko, Harry, Rakowski
Publikováno v:
Echocardiography (Mount Kisco, N.Y.). 29(7)
Anderson-Fabry disease (AFD) is a lysosomal storage disease, which can involve the heart, mimicking hypertrophic cardiomyopathy (HCM). The underlying mechanism of disease in AFD is an infiltrative, diffuse process, whereas HCM is a primary heart musc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f9a8c7d905490e5cb07534f42fc298f
https://pubmed.ncbi.nlm.nih.gov/22497597
https://pubmed.ncbi.nlm.nih.gov/22497597
Autor:
Ellen Crushell, Joe T. R. Clarke
Publikováno v:
Inherited Metabolic Diseases ISBN: 9783540747222
Inherited Metabolic Diseases ISBN: 9783662494080
Inherited Metabolic Diseases ISBN: 9783662494080
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1b23895a2580bd5cdab6d273aa50dfe
https://doi.org/10.1007/978-3-540-74723-9_25
https://doi.org/10.1007/978-3-540-74723-9_25