Zobrazeno 1 - 10
of 10
pro vyhledávání: '"M P Champion"'
Publikováno v:
Neuropediatrics. 35:211-216
The clinical history and the neuroradiological findings have been reviewed for 5 patients with biotinidase deficiency. Patients were diagnosed in the UK, where neonatal screening for this disorder is not done. The age at presentation ranged from 4 we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b4bf7dfe8ee4b13641cdbd8c7e357fb
https://doi.org/10.1055/s-2004-821080
https://doi.org/10.1055/s-2004-821080
Publikováno v:
Clinical Intensive Care. 9:67-70
The relationship between the plasma ketone body ratio (acetoacetate:3-hydroxybutyrate) in peripheral arterial and central venous blood was investigated in 49 children admitted to the paediatric intensive care unit. The patients had a median age of 1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::405e73b2351d16eb317d1a4e6bea8cb4
https://doi.org/10.3109/tcic.9.2.67.70
https://doi.org/10.3109/tcic.9.2.67.70
Autor:
M. Cleary, H. Jones, C. R. Scriver, Mario Cortina-Borja, Pia Hardelid, A. Munro, M. P. Champion, Carol Dezateux, Y. Foo
Publikováno v:
Annals of human genetics. 72(Pt 1)
Summary Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, themajor disease phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accc0a16d84b9f53cca3993e2dbd886c
https://pubmed.ncbi.nlm.nih.gov/18184144
https://pubmed.ncbi.nlm.nih.gov/18184144
Autor:
Małgorzata J.M. Nowaczyk, Gajja S. Salomons, Julian Raiman, Melissa P. Wasserstein, Dawn Peck, George E. Hoganson, K. Donaldson, Julian P.H. Shield, Richard Hillman, C. Jakobs, D. Ketteridge, K. M. Gibson, T. Slade, L. Landegge Pope, Abdellatif Errami, M. P. Champion, D. Gavrilov, Murray A. Potter, Nigel J. Manning, Simon E. Olpin
Publikováno v:
Journal of inherited metabolic disease. 30(1)
We report nine new patients with malonic aciduria associated with enzyme-confirmed malonyl-CoA decarboxylase (MCD) deficiency in eight. Clinical details were available on eight, and molecular genetic characterization was obtained for nine. As for 15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b44bde8e0cb535064186053fab3de3c
https://pubmed.ncbi.nlm.nih.gov/17186413
https://pubmed.ncbi.nlm.nih.gov/17186413
Autor:
M. P. Champion, T. Cranston, S. Genet, James V. Leonard, Stephanie Grunewald, J. Hüsing, Lynette D. Fairbanks
Publikováno v:
Journal of inherited metabolic disease. 27(2)
The allopurinol test aims to distinguish carriers and noncarriers for ornithine transcarbamylase (OTC) deficiency. We have evaluated the reliability of the test in at-risk females of known genotype. Results based on urine orotidine and/or orotic acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad1f920c5a81b20b7b01cdb10ce444a4
https://pubmed.ncbi.nlm.nih.gov/16601906
https://pubmed.ncbi.nlm.nih.gov/16601906
Duodenal perforation is a rare, life threatening injury associated with non-accidental blunt abdominal trauma. Diagnostic delay is common, as the true history is concealed and signs may be minimal. Double contrast computed tomography is the most sens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dacd3b3a525c1cbc2874bdbfc5ee78b7
https://europepmc.org/articles/PMC1763086/
https://europepmc.org/articles/PMC1763086/
Autor:
P. Dorao, J. L. Vazquez, F. Ruza, S. García, M. A. Delgado, C. Calvo, Jennifer J. Verhoeven, Jan A. Hazelzet, Koen F. M. Joosten, George Briassoulis, Shekhar Venkataraman, Ann Thompson, H. P. Leite, S. Iglesias, C. Faria, A. Ikeda, M. P. Albuquerque, W. B. Carvalho, Paolo Cogo, Giuseppe Giordano, Tamara Badon, Alberto Orzali, Luc Zimmerman, Pieter Sauer, Virgilio Carnielli, M. P. Champion, M. J. Marsh, R. N. Dalton, I. A. Murdoch, G. C. Morrison, T. Sajjanhar, Subir K. Chatterjee, Sugato Banerjee
Publikováno v:
Intensive Care Medicine. 22:S195-S196
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86d2be85aea0589fdda9fa30086465c9
https://doi.org/10.1007/bf03216390
https://doi.org/10.1007/bf03216390
Publikováno v:
BMJ. 314:369-369
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::273354edca386298677347d43b6befb7
https://doi.org/10.1136/bmj.314.7077.369a
https://doi.org/10.1136/bmj.314.7077.369a
Publikováno v:
Pflugers Archiv : European journal of physiology. 413(1)
We have performed whole-cell patch-clamp studies on dispersed secretory cells of the rat mandibular gland to determine how beta-adrenergic stimulation causes fluid secretion. When the pipette contained a high K+ solution, the resting membrane potenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0d57da53a76c24185f297a2239b320
https://pubmed.ncbi.nlm.nih.gov/2851130
https://pubmed.ncbi.nlm.nih.gov/2851130
Publikováno v:
BJA: The British Journal of Anaesthesia. Apr2008, Vol. 100 Issue 4, p436-436. 1p.