J. Walter

The complete European guidelines on phenylketonuria: diagnosis and treatment

N. Blau, S. Huijbregts, A. Macdonald, 2017, Orphanet Journal of Rare Diseases.

Amnionless (AMN) mutations in Imerslund–Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS

A. Luder, A. Chapelle, S. M. Tanner, 2008, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

A. Ribes, M. Wajner, B. Merinero, 2006, Pediatric Research.

Inborn errors of metabolism and pregnancy

J. Walter, J. Walter, 2000, Journal of Inherited Metabolic Disease.

How practical are recommendations for dietary control in phenylketonuria?

A. Boneh, A. Macdonald, A. Vail, 2002, The Lancet.

Follow up of phenylketonuria patients.

J. Walter, M. Giovannini, M. Giżewska, 2011, Molecular genetics and metabolism.

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

J. Walter, A. Morris, A. Morris, 2016, JIMD reports.