Molecular Genetics and Metabolism

1

Oxidative stress in phenylketonuric patients

C.R. Vargas, M. Wajner, A. Sitta

Journal:

Year:

2011

Language:

english

File:

PDF, 134 KB

english, 2011

2

Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

María J. González, Alfonso P. Gutiérrez, Rosa Gassió, María E. Fusté, María A. Vilaseca, Jaume Campistol

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 283 KB

english, 2011

3

Vitamin B12 deficiency and phenylketonuria

John H. Walter

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 132 KB

english, 2011

4

The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones

João Leandro, Jaakko Saraste, Paula Leandro, Torgeir Flatmark

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 489 KB

english, 2011

5

Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Isabel Rivera, Dina Mendes, Ângela Afonso, Madalena Barroso, Ruben Ramos, Patrícia Janeiro, Anabela Oliveira, Ana Gaspar, Isabel Tavares de Almeida

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 196 KB

english, 2011

6

Follow up of phenylketonuria patients

M. Demirkol, M. Giżewska, M. Giovannini, J. Walter

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 242 KB

english, 2011

7

The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles

Natella Kostandyan, Corinne Britschgi, Albert Matevosyan, Alvina Oganezova, Anahit Davtyan, Nenad Blau, Beat Steinmann, Beat Thöny

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 237 KB

english, 2011

8

Up to date knowledge on different treatment strategies for phenylketonuria

Amaya Bélanger-Quintana, Alberto Burlina, Cary O. Harding, Ania C. Muntau

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 304 KB

english, 2011

9

Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes

Margreet van Rijn, Marieke Hoeksma, Pieter J.J. Sauer, Pim Modderman, Dirk-Jan Reijngoud, Francjan J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 188 KB

english, 2011

10

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Nenad Blau, Julia B. Hennermann, Ulrich Langenbeck, Uta Lichter-Konecki

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.27 MB

english, 2011

11

Nutrition in phenylketonuria

A. MacDonald, J.C. Rocha, M. van Rijn, F. Feillet

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 382 KB

english, 2011

12

Adult phenylketonuria outcome and management

F. Trefz, F. Maillot, K. Motzfeldt, M. Schwarz

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

13

Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?

Hulya Gokmen-Ozel, Carol Ferguson, Sharon Evans, Anne Daly, Anita MacDonald

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 132 KB

english, 2011

14

Specific prebiotics in a formula for infants with Phenylketonuria

Anita MacDonald, Barbara Cochrane, Harm Wopereis, Nik Loveridge

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 236 KB

english, 2011

15

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

Tatiéle Nalin, Ingrid Dalira Schweigert Perry, Angela Sitta, Carmen Regla Vargas, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Nenad Blau, Ida Vanessa Doederlein Schwartz

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 301 KB

english, 2011

16

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

K. Anjema, G. Venema, F.C. Hofstede, E.C. Carbasius Weber, A.M. Bosch, N.M. Ter Horst, C.E.M. Hollak, C.F. Jonkers, M.E. Rubio–Gozalbo, E.M.C. van der Ploeg, M.C. de Vries, R.G. Janssen-Regelink, M.C.

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 491 KB

english, 2011

17

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development

F.J. van Spronsen, S.C.J. Huijbregts, A.M. Bosch, V. Leuzzi

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 214 KB

english, 2011

18

Editorial

Nenad Blau, Anita MacDonald, Francjan van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

19

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 30 KB

english, 2011

20

Volume 104; Issue supp-S

Oxidative stress in phenylketonuric patients

Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

Vitamin B12 deficiency and phenylketonuria

The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones

Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Follow up of phenylketonuria patients

The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles

Up to date knowledge on different treatment strategies for phenylketonuria

Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Nutrition in phenylketonuria

Adult phenylketonuria outcome and management

Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?

Specific prebiotics in a formula for infants with Phenylketonuria

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development

Editorial

Editorial Board

Table of Contents