Lista de obras -

Blood phenylalanine control in adolescents with phenylketonuria.

artículo científico publicado en 2004

Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria.

artículo científico publicado en 1997

Daily variation in food intake of infants from 2 to 18 months

scientific article published on 01 December 1983

Dietary management of urea cycle disorders: European practice.

artículo científico publicado en 2013

Dietary management of urea cycle disorders: UK practice ⬇️

artículo científico publicado el 18 de mayo de 2012

Dietary practices in isovaleric acidemia: A European survey

artículo científico publicado en 2017

Dietary practices in propionic acidemia: A European survey

artículo científico publicado en 2017

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

artículo científico publicado en 2013

How practical are recommendations for dietary control in phenylketonuria?

artículo científico publicado en 2002

Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

scientific article published on 01 April 2000

Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change

artículo científico publicado en 1995

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

artículo científico publicado en 2015

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria.

artículo científico publicado en 2006

Review of specialist dietitian services in patients with inherited metabolic disease in the United Kingdom.

artículo científico publicado en 2007

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

scientific article published on 01 April 1998

The use of continuous glucose monitoring in the practical management of glycogen storage disorders

artículo científico publicado en 2011

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.

artículo científico publicado en 2013

Lista de obras de

Blood phenylalanine control in adolescents with phenylketonuria.

Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria.

Daily variation in food intake of infants from 2 to 18 months

Dietary management of urea cycle disorders: European practice.

Dietary management of urea cycle disorders: UK practice ⬇️

Dietary practices in isovaleric acidemia: A European survey

Dietary practices in propionic acidemia: A European survey

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

How practical are recommendations for dietary control in phenylketonuria?

Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria.

Review of specialist dietitian services in patients with inherited metabolic disease in the United Kingdom.

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

The use of continuous glucose monitoring in the practical management of glycogen storage disorders

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.