Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984 - Softcover

 
9789401180214: Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984
Softcover
ISBN 10: 9401180210 ISBN 13: 9789401180214
Verlag: Springer, 2012

Inhaltsangabe

together with short communications from members to In 1972 the 10th Annual Symposium of the Society for the provide a valuable overview of the current status of this Study ofInborn Errors of Metabolism was held in Cardiff field. The difficulty in establishing an uneq uivocal clinical and the proceedings published in 1973. The meeting was devoted to the treatment of inborn errors of metabolism; response to vitamin treatment was discussed by Dr in particular the dietary treatment of phenylketonuria Leonard. The papers on biotin-responsive combined and vitamin responsive disorders were reviewed. These carboxylase deficiency presented by Drs Bartlett, Wolf two areas have seen notable advances in the intervening and Baumgartner emphasized the widely differing years. It has become apparent that a number of variants of mechanisms which may underline apparently similar PKU are due to defective cofactor metabolism, and, clinical responses. In particular biotinidase deficiency appears to be a unique defect of cofactor recycling. indeed, some patients refractory to simple dietary restriction of phenylalanine respond to the adminis­ Riboflavin, thiamine, and pyridoxine responsive disor­ tration of the phenylalanine hydroxylase cofactor ders were succinctly reviewed by Drs Gregersen, Duran and Fowler, again interspersed with relevant short biopterin or related compounds. Biopterin, normally communications from members. Two papers by Drs synthesized de 110W, in some individuals has become a ·vitamin’.

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Reseña del editor

together with short communications from members to In 1972 the 10th Annual Symposium of the Society for the provide a valuable overview of the current status of this Study ofInborn Errors of Metabolism was held in Cardiff field. The difficulty in establishing an uneq uivocal clinical and the proceedings published in 1973. The meeting was devoted to the treatment of inborn errors of metabolism; response to vitamin treatment was discussed by Dr in particular the dietary treatment of phenylketonuria Leonard. The papers on biotin-responsive combined and vitamin responsive disorders were reviewed. These carboxylase deficiency presented by Drs Bartlett, Wolf two areas have seen notable advances in the intervening and Baumgartner emphasized the widely differing years. It has become apparent that a number of variants of mechanisms which may underline apparently similar PKU are due to defective cofactor metabolism, and, clinical responses. In particular biotinidase deficiency appears to be a unique defect of cofactor recycling. indeed, some patients refractory to simple dietary restriction of phenylalanine respond to the adminis­ Riboflavin, thiamine, and pyridoxine responsive disor­ tration of the phenylalanine hydroxylase cofactor ders were succinctly reviewed by Drs Gregersen, Duran and Fowler, again interspersed with relevant short biopterin or related compounds. Biopterin, normally communications from members. Two papers by Drs synthesized de 110W, in some individuals has become a ·vitamin'.

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Verlag
Springer
Erscheinungsdatum
2012
Sprache
Englisch
ISBN 10 
9401180210
ISBN 13 
9789401180214
Einband
Tapa blanda
Anzahl der Seiten
168
Herausgeber
Addison G.M., Bartlett K., Harkness R. Angus, Pollitt R.J.
Kontakt zum Hersteller
Nicht verfügbar
Verantwortliche Person
CMN Printpool Inh. Mathis Neumann
https://www.also.com/ec/cms5/en_6000/6000/index.jsp

Friedrich-Karl-Str. 9
Hamburg
Deutschland

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Vorgestellte Ausgabe

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