*PhosphoMotif Finder - Human Proteine Reference Database
*Inborn Errors of Metabolism Map and Enzyme Nomenclature
*NEWBORN SCREENING ACT SHEETS AND CONFIRMATORY ALGORITHMS
*Inborn Errors of Metabolism in Infancy and Early Childhood: An Update (in .pdf)
IN LIBRERIA |
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Diagnosi e trattamento dell’iperammoniemia neonatale italiana del protocollo diagnostico-terapeutico del Gruppo di Studio Spagnolo-Portoghese per le Iperammoniemie neonataliRevisione a cura di: |
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Phenylketonuria and BH4 Deficiencies Published: 2010 Nenad Blau, Barbara K. Burton, Beat Thöny, Francjan J. van Spronsen, Susan Waisbren 1st edition 2010, 80 pp, 23 illustrations, Hardcover, ISBN 978-3-8374-1238-3 Pdf file |
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Published: 2010 |
Ethics and Newborn Genetic Screening New Technologies, New Challenges |
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Fernandes J, Saudubray JM, van den Berghe
G., Walter J. |
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Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases Blau N, Hoffmann GF, Leonard J, Clarke J.T.R. |
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Atlas
of Metabolic Diseases
WL Nyhan, BA Barshop, PT Ozand |
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Physicians Guide to the Treatment and Follow-up of Metabolic Diseases Blau, N.; Hoffmann, G.F.; Leonard, J.; Clarke,
J.T.R. (Eds.) |
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Practical
Approach to Rare Metabolic Disorders
H.W. de Valk MD PhD |
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A
Clinical Guide ti Inherited Metabolic Diseases
Joe T.R. Clarke |
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Universal
Newborn Screening
Professeur Darryl C. De Vivo, Mr. Joseph M. Valenzano,
Jr. et coll. EP Foundation for Education. |
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Neurology
of Hereditary Metabolic Diseases of Children
Lyon, Gilles, Kolodny, Edwin H. Pastores, Gregory M. |
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Newsletter SSIEM |
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SCREENING NEONATALE METABOLICO ALLARGATO: Vademecum per il pediatra |
LINKS:
* The Jurnal of Clinical Investigation
* Genetics in Medicine Official Journal of the American College of medical genetics
* ORPHANET JOURNAL OF RARE DISEASES
* The European Journal Of Human Genetics
* BioMed Central The Open Access Publisher