Errore congenito del metabolismo: differenze tra le versioni

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==Risorse==
==Risorse==
For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver
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<ref>
[[Charles Scriver]], Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (accessed 2007). [http://www.ommbid.com The Online Metabolic and Molecular Bases of Inherited Disease]. New York: McGraw-Hill. -
Summaries of 255 chapters, full text through many universities. There is also the [http://books.mcgraw-hill.com/medical/ommbid/blog/ OMMBID blog].
</ref>. Fernandes
<ref>
{{cite book
| last = Fernandes
| first = J.
| authorlink =
| coauthors = Saudubray, J.M.; van den Berghe, G.; Walter, J.H.
| title = Inborn Metabolic Diseases : Diagnosis and Treatment
| publisher = Springer
|edition= 4th
| date = 2006
| location =
| url = http://www.springer.com/dal/home/medicine/pediatrics?SGWID=1-10079-22-97001537-0
| doi =
| isbn =
| page = 561 p }}
</ref>, Clarke
<ref>
{{cite book
| last = Clarke
| first = J.T.R.
| authorlink =
| coauthors =
| title = A Clinical Guide to Inherited Metabolic Diseases
| publisher = Cambridge University Press
|edition= 3rd
| date = 2005
| location = Cambridge
| url = http://www.cambridge.org/uk/catalogue/catalogue.asp?isbn=9780521614993
| doi = 10.2277/0521614996
| isbn = 978-0521614993
| page = 358 p }}
</ref>, Blau (diagnosis)
<ref>
{{cite book
| last = Blau
| first = N.
| authorlink =
| coauthors = Duran, M.; Blaskovics, M.E.; Gibson, K.M.
| title = Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
| publisher = Springer
|edition= 2nd
| date = 2002

| location =
| url = http://www.springer.com/dal/home?SGWID=1-102-22-2083693-0&changeHeader=true
| doi =
| isbn = 978-3-540-42542-7
| page = 716 p }}
</ref>, Blau (treatment)
<ref>
{{cite book
| last = Blau
| first = N
| authorlink =
| coauthors = Hoffmann, G.F.; Leonard, J.; Clarke, J.T.R.
| title = Physician's Guide to the Treatment And Follow-up of Metabolic Diseases
| publisher = Springer
|edition= 1st
| date = 2006
| location =
| url = http://www.springer.com/dal/home?SGWID=1-102-22-34377103-0&changeHeader=true
| doi =
| isbn = 3-540-22954-X
| page = 416 p }}
</ref>, Lyon
<ref>
{{cite book
| last = Lyon
| first = G.
| authorlink =
| coauthors = Kolodny, E.H.; Pastores, G.
| title = Neurology of Hereditary Molecular & Metabolic Disease of Children
| publisher = McGraw-Hill Professional
|edition= 3rd
| date = 2006
| location =
| url = http://www.mhprofessional.com/product.php?cat=116&isbn=0071445080
| doi =
| id =
| page = 500p }}
</ref>, Nyhan
<ref>
{{cite book
| last = Nyhan
| first = W.L.
| authorlink =
| coauthors = Barshop, B.; Ozand, P.T.
| title = Atlas of Metabolic Diseases
| publisher = Oxford University Press
|edition= 2nd
| date = 2005
| location =
| url = http://www.oup.com/us/catalog/general/subject/Medicine/Genetics/~~/dmlldz11c2EmY2k9OTc4MDM0MDgwOTcwOQ==
| doi =
| id =
| page = 800 p }}
</ref>, Hoffmann
<ref>
{{cite book
| last = Hoffmann
| first = G.F
| authorlink =
| coauthors = Nyhan, W.L.; Zschocke, J.; Kahler, S.G; Mayatepek, E.
| title = Inherited Metabolic diseases
| publisher = Lippincott Williams & Wilkins
|edition=
| date = 2001
| location =
| url = http://www.lww.com/product/?978-0-7817-2900-0
| doi =
| id =
| page = 448 p }}
</ref> and Zschocke
<ref>
{{cite book
| last = Zschocke
| first = J
| authorlink =
| coauthors = Hoffmann, G.F.
| title = Vademecum Metabolicum
| publisher = Schattauer GmbH
|edition= 2nd
| date = 2004
| location =
| url = http://82.139.217.185/schatt/gv/titles/schat2385.asp
| doi =
| id =
| page = 176 p }}
</ref>. Other resources include [http://www.genereviews.org/ genetests], [http://www.orpha.net/ orphanet], [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM], [[Metab-L]],societies such as the [http://www.ssiem.org/ SSIEM], the [http://www.simd.org/ SIMD] and links therein. For medical students and clinicians looking for overviews of the field, such reviews can be found on [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?DB=pubmed pubmed] and in good pediatric textbooks (e.g. articles by Saudubray<ref>{{cite journal |author=Saudubray J, Sedel F, Walter J |title=Clinical approach to treatable inborn metabolic diseases: an introduction |journal=J Inherit Metab Dis |volume=29 |issue=2-3 |pages=261–74 |year= 2006|pmid=16763886 |doi=10.1007/s10545-006-0358-0}}</ref>, Ellaway<ref>{{cite journal |author=Ellaway C, Wilcken B, Christodoulou J |title=Clinical approach to inborn errors of metabolism presenting in the newborn period |journal=J Paediatr Child Health |volume=38 |issue=5 |pages=511–7 |year=2002 |pmid=12354271 |doi=10.1046/j.1440-1754.2002.00047.x}}</ref>, Raghuveer<ref>{{cite journal |author=Raghuveer T, Garg U, Graf W |title=Inborn errors of metabolism in infancy and early childhood: an update |journal=Am Fam Physician |volume=73 |issue=11 |pages=1981–90 |year=2006 |pmid=16770930}}</ref> or Burton<ref>{{cite journal |author=Burton B |title=Inborn errors of metabolism in infancy: a guide to diagnosis |journal=Pediatrics |volume=102 |issue=6 |pages=E69 |year=1998 |pmid=9832597 |doi=10.1542/peds.102.6.e69}}</ref> and textbooks by Hay<ref>
{{cite book
| last = Hay
| first = W.H., Jr.
| authorlink =
| coauthors = Levin, M.J.; Sondheimer, J.M.; Deterding, R.R.
| title = Current Pediatric Diagnosis and Treatment
| publisher = McGraw-Hill
|edition= 18th
| date = 2006
| location =
| url = http://www.accessmedicine.com/resourceTOC.aspx?resourceID=14
| doi =
| id =
| page = 1306 p }}
</ref> or Behrman<ref>
{{cite book
| last = Behrman
| first = R.E.
| authorlink =
| coauthors = Kliegman, R.M.; Jenson, H.B.
| title = Nelson Textbook of Pediatrics
| publisher = Elsevier
|edition= 17th
| date = 2004
| location =
| url = http://www.nelsonpediatrics.com/
| doi =
| id =
| page = 2672 p }}
</ref>).

For patients, their families or other individuals seeking good information and support groups, the [[National Institutes of Health]] offers the [http://rarediseases.info.nih.gov/ office of rare diseases], [http://ghr.nlm.nih.gov/ genetics home reference], [http://www.nlm.nih.gov/medlineplus/ medlineplus] and [http://health.nih.gov/ health information]. The National Human Genome Research Institute hosts an [http://www.genome.gov/10000409 information center], a section for [http://www.genome.gov/19016903 patients and the public] and additional [http://www.genome.gov/Education/ educational resources]. Support groups can be found at [http://www.rarediseases.org/ NORD], [http://www.geneticalliance.org/ Genetic Alliance] and [http://www.orpha.net/ Orphanet]. The [http://www.kumc.edu/gec/about.html genetic education center] at the KUMC has many more useful links.


==Note==
==Note==

Versione delle 21:24, 10 dic 2009

Template:Infobox Malattia Template:Disclaimer soccorso Gli Errori congeniti del metabolismo (ECM) sono un'ampia classe di malattie genetiche che coinvolgono difetti metabolici. Gran parte degli ECM sono dovuti a difetti genici che codificano gli enzimi atti alla conversione di alcune sostanze (substrati) in altre (prodotti). Nella maggior parte delle malattie, i problemi sono legati all'accumulo di sostanze che sono tossiche o che interferiscono con il funzionamento normale, o all'effetto di ridurre l'abilità di sintetizzare composti essenziali. Gli errori congeniti del metabolismo sono spesso chiamati malattie metaboliche congenite o malattie metaboliche ereditarie.

Il termine inborn error of metabolism (il corrispettivo inglese di Errori congeniti del metabolismo fu coniato dal fisico inglese Archibald Garrod (1857-1936), all'inizio del ventesimo secolo (1908). Garrod è conosciuto per il suo lavoro nella prefigurazione dell'ipotesi un gene-un enzima, basati sui suoi studi sulla natura e sull'editarietà dell'Alcaptonuria. Il suo testo determinante, inborn error of metabolism fu pubblicato nel 1923.

Principali categorie delle malattie metaboliche ereditarie

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Manifestazioni delle malattie metaboliche

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Tecniche diagnostiche

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Screening neonatale

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Risorse

For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver [1]. Fernandes [2], Clarke [3], Blau (diagnosis) [4], Blau (treatment) [5], Lyon [6], Nyhan [7], Hoffmann [8] and Zschocke [9]. Other resources include genetests, orphanet, OMIM, Metab-L,societies such as the SSIEM, the SIMD and links therein. For medical students and clinicians looking for overviews of the field, such reviews can be found on pubmed and in good pediatric textbooks (e.g. articles by Saudubray[10], Ellaway[11], Raghuveer[12] or Burton[13] and textbooks by Hay[14] or Behrman[15]).

For patients, their families or other individuals seeking good information and support groups, the National Institutes of Health offers the office of rare diseases, genetics home reference, medlineplus and health information. The National Human Genome Research Institute hosts an information center, a section for patients and the public and additional educational resources. Support groups can be found at NORD, Genetic Alliance and Orphanet. The genetic education center at the KUMC has many more useful links.

Note

Template:R


  1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.
  2. ^ J. Fernandes, Saudubray, J.M.; van den Berghe, G.; Walter, J.H., Inborn Metabolic Diseases : Diagnosis and Treatment, 4th, Springer, 2006, pp. 561 p.
  3. ^ J.T.R. Clarke, A Clinical Guide to Inherited Metabolic Diseases, 3rd, Cambridge, Cambridge University Press, 2005, pp. 358 p, DOI:10.2277/0521614996, ISBN 978-0521614993.
  4. ^ N. Blau, Duran, M.; Blaskovics, M.E.; Gibson, K.M., Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd, Springer, 2002, pp. 716 p, ISBN 978-3-540-42542-7.
  5. ^ N Blau, Hoffmann, G.F.; Leonard, J.; Clarke, J.T.R., Physician's Guide to the Treatment And Follow-up of Metabolic Diseases, 1st, Springer, 2006, pp. 416 p, ISBN 3-540-22954-X.
  6. ^ G. Lyon, Kolodny, E.H.; Pastores, G., Neurology of Hereditary Molecular & Metabolic Disease of Children, 3rd, McGraw-Hill Professional, 2006, pp. 500p.
  7. ^ W.L. Nyhan, Barshop, B.; Ozand, P.T., Atlas of Metabolic Diseases, 2nd, Oxford University Press, 2005, pp. 800 p.
  8. ^ G.F Hoffmann, Nyhan, W.L.; Zschocke, J.; Kahler, S.G; Mayatepek, E., Inherited Metabolic diseases, Lippincott Williams & Wilkins, 2001, pp. 448 p.
  9. ^ J Zschocke, Hoffmann, G.F., Vademecum Metabolicum, 2nd, Schattauer GmbH, 2004, pp. 176 p.
  10. ^ Saudubray J, Sedel F, Walter J, Clinical approach to treatable inborn metabolic diseases: an introduction, in J Inherit Metab Dis, vol. 29, n. 2-3, 2006, pp. 261–74, DOI:10.1007/s10545-006-0358-0.
  11. ^ Ellaway C, Wilcken B, Christodoulou J, Clinical approach to inborn errors of metabolism presenting in the newborn period, in J Paediatr Child Health, vol. 38, n. 5, 2002, pp. 511–7, DOI:10.1046/j.1440-1754.2002.00047.x.
  12. ^ Raghuveer T, Garg U, Graf W, Inborn errors of metabolism in infancy and early childhood: an update, in Am Fam Physician, vol. 73, n. 11, 2006, pp. 1981–90.
  13. ^ Burton B, Inborn errors of metabolism in infancy: a guide to diagnosis, in Pediatrics, vol. 102, n. 6, 1998, pp. E69, DOI:10.1542/peds.102.6.e69.
  14. ^ W.H., Jr. Hay, Levin, M.J.; Sondheimer, J.M.; Deterding, R.R., Current Pediatric Diagnosis and Treatment, 18th, McGraw-Hill, 2006, pp. 1306 p.
  15. ^ R.E. Behrman, Kliegman, R.M.; Jenson, H.B., Nelson Textbook of Pediatrics, 17th, Elsevier, 2004, pp. 2672 p.
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