Zobrazeno 1 - 10
of 13
pro vyhledávání: '"M D Bain"'
Autor:
C A Seymour, M D Bain, Peter Littlejohns, Joanne Lord, M J Thomason, G M Addison, A H Wilcox, R A Chalmers
Publikováno v:
Scopus-Elsevier
STUDY OBJECTIVE: To estimate the net financial benefit of neonatal screening for phenylketonuria (PKU): by a simple pooling of cost data from the literature; and by a more complex modelling approach. DESIGN: A systematic literature review was conduct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b3f9ab148d7986b2bdc5200d4b7dd5
https://doi.org/10.1136/jech.53.3.179
https://doi.org/10.1136/jech.53.3.179
Publikováno v:
Pediatric Research. 30:560-563
Eleven patients with methylmalonic aciduria have been classified on the basis of detailed enzymology on cultured skin fibroblasts. Nine were classified as mutase deficiencies and were unresponsive to hydroxocobalamin in vivo or in vitro. One was clas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f737a228e552ebdf7a30aad0ab286e
https://doi.org/10.1203/00006450-199112000-00014
https://doi.org/10.1203/00006450-199112000-00014
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive condition caused by mutations in the nuclear gene ECGF1 coding for thymidine phosphorylase (TP).1,2 Clinical features include gastrointestinal dysmotility, periph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e1ada143225260b702d5cbe6374f67
https://openaccess.sgul.ac.uk/id/eprint/100448/1/MNGIE.pdf
https://openaccess.sgul.ac.uk/id/eprint/100448/1/MNGIE.pdf
Publikováno v:
The Journal of Physiology. 431:505-513
1. Permeability of the human placenta to four permeants of different molecular size was measured at Caesarean section in seven normal full-term pregnancies. 2. Placental clearance for mannitol was 8.7 +/- 1.1 ml min-1 (mean +/- S.E.M.), lactulose 6.3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dce01a84c8c90363084fa7e2fb227b4
https://doi.org/10.1113/jphysiol.1990.sp018343
https://doi.org/10.1113/jphysiol.1990.sp018343
Publikováno v:
Advances in experimental medicine and biology. 486
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f984c90c11d6dd57ee827c69bafe3946
https://pubmed.ncbi.nlm.nih.gov/11783525
https://pubmed.ncbi.nlm.nih.gov/11783525
Publikováno v:
British journal of haematology. 109(3)
Polyethylene glycol-conjugated adenosine deaminase (pegademase) is used for enzyme replacement therapy for patients with severe combined immunodeficiency caused by adenosine deaminase deficiency. The entrapment of pegademase within human energy-reple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::982e9db630522ae1ad208e559130a391
https://pubmed.ncbi.nlm.nih.gov/10886203
https://pubmed.ncbi.nlm.nih.gov/10886203
Publikováno v:
European journal of pediatrics. 154(10)
Growth hormone (GH) insufficiency was demonstrated in a patient with methylmalonic aciduria. GH administration at 14-21 U/m2 per week accelerated linear growth, stimulated lipolysis, and produced clinical improvement and reduced urinary methylmalonat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e3ec8c6844e8bb4d275557c158938f
https://pubmed.ncbi.nlm.nih.gov/8529687
https://pubmed.ncbi.nlm.nih.gov/8529687
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:e1.48-e1
MNGIE is a fatal, autosomal recessive disorder caused by mutations in TYMP, a nuclear gene encoding thymidine phosphorylase (TP), leading to accumulation of thymidine (dThd) and deoxyuridine (dUrd) in all tissues. This impairs mitochondrial DNA (mtDN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::006159754b6778001569e6d250bfd109
https://doi.org/10.1136/jnnp-2011-301993.141
https://doi.org/10.1136/jnnp-2011-301993.141
Publikováno v:
European journal of pediatrics. 149(9)
Over an 18-month period serial observations of plasma tyrosine, methionine and urinary tyrosine metabolites were made and compared with urinary succinylacetone excretion in an infant with tyrosinaemia type 1 treated by diet alone. Despite broadly sim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e16542906ef69b6ff9bd1af440100fd
https://pubmed.ncbi.nlm.nih.gov/2373116
https://pubmed.ncbi.nlm.nih.gov/2373116
Autor:
R A Chalmers, M D Bain
Publikováno v:
Archives of Disease in Childhood. 69:407-408
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25c92e385493f5f586e547c512356b68
https://doi.org/10.1136/adc.69.3.407-a
https://doi.org/10.1136/adc.69.3.407-a