Hyperphenylalaninemias, Tyrosinemias, Glycogenosis, Hyperammonemia

Author:

Ciaccio Marcello,Agnello Luisa

Publisher

Springer International Publishing

Reference25 articles.

1. Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L et al (2008) Management and treatment of glycogenosis type II. Neurology 71(23 Suppl 2):S12–S36

2. Bickel H, Gerrard J, Hickmans EM (1953 Oct) Influence of phenylalanine intake on phenylketonuria. Lancet 265(6790):812–813

3. Blau N, Belanger Quintana A, Demirkol M et al (2010) Management of phenylketouria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115

4. Burlina A, Giordano L (2010) Diagnosi e trattamento dell’iperammoniemia neonatale. Edizione italiana del protocollo diagnostico-terapeutico del Gruppo di Studio Spagnolo-Portoghese per le Iperammoniemie neonatali. Depositato AIFA ottobre

5. Chace DH, Sherwin JE, Hillman SL, Lorey F, Cunningham GC (1998 Dec) Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem 44(12):2405–2409

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