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Molecular Genetics and Metabolism|May 16, 2025

European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.

Molecular Genetics and Metabolism|February 21, 2021

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.

Neurology|July 21, 2006

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisS Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, et al.

American Journal of Medical Genetics. Part A|September 19, 2009

Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.

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Search research articles

Showing results (61-70 of 64) with videos related to

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You have reached the last page of results.This site can display upto 64 results.

Molecular Genetics and Metabolism|May 16, 2025

European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.

Molecular Genetics and Metabolism|February 21, 2021

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.

Neurology|July 21, 2006

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisS Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, et al.

American Journal of Medical Genetics. Part A|September 19, 2009

Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.

Pageof 7