Aismme Onlus

Libreria

*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

 
aismme

Diagnosi e trattamento dell’iperammoniemia neonatale

italiana del protocollo diagnostico-terapeutico del Gruppo di Studio Spagnolo-Portoghese per le Iperammoniemie neonatali

Revisione a cura di:
Alberto Burlina, Laura Giordano
S.C. Malattie Metaboliche Ereditarie Dipartimento di Pediatria
Azienda Ospedaliera - Università di Padova
PDF File

aismme 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
aismme

Inherited Metabolic Diseases

Published: 2010
Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (Eds.)
1st Edition., 2010, 448 p. 58 illus., 25 in color. With CD-ROM.,

aismme

Ethics and Newborn Genetic Screening

New Technologies, New Challenges
edited by Mary Ann Baily and Thomas H. Murray

Molecular Genetics
Vademecum Metabolicum
Germany

Poland

UK

Vademecum Metabolicum

Zschocke J, Hoffmann G.F.
Schattauer, Stuttgart
2004 (2nd edition)

Inborn Metabolic Diseases

Inborn Metabolic Diseases

Fernandes J, Saudubray JM, van den Berghe G., Walter J.
Springer, Heidelberg
2005 – 4th edition

Physician's Guide

Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

Blau N, Hoffmann GF, Leonard J, Clarke J.T.R.
Springer, Heidelberg
2005

Atlas Metabolic Diseases
Atlas of Metabolic Diseases

WL Nyhan, BA Barshop, PT Ozand

Physician's Guide

Physicians Guide to the Treatment and Follow-up of Metabolic Diseases

Blau, N.; Hoffmann, G.F.; Leonard, J.; Clarke, J.T.R. (Eds.)
2006

Pratical Approach to rare metabolic disorders
Practical Approach to Rare Metabolic Disorders

H.W. de Valk MD PhD
Z.M.Barriento Martinez MSc

Clinical Guide
Universal Newborn Screening
Universal Newborn Screening

Professeur Darryl C. De Vivo, Mr. Joseph M. Valenzano, Jr. et coll. EP Foundation for Education.

Neurology of hereditary metabolic diseases of children
Neurology of Hereditary Metabolic Diseases of Children

Lyon, Gilles, Kolodny, Edwin H. Pastores, Gregory M.

Journal of Inherited Metabolic Disease
Newsletter SSIEM

 

LINKS:

* The Jurnal of Clinical Investigation

* Genetics in Medicine Official Journal of the American College of medical genetics

* ORPHANET JOURNAL OF RARE DISEASES

* Cell Metabolism

* The Journal of Cell Biology

* The European Journal Of Human Genetics

* NIH Medline Plus Magazine

* BioMed Central The Open Access Publisher