John H. Walter

Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 23 publications

Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

Journal: EMBO molecular medicine

Published: April 08, 2021

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Journal: Journal of inherited metabolic disease

Published: February 19, 2019

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Journal: Journal of inherited metabolic disease

Published: January 14, 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Journal: Journal of inherited metabolic disease

Published: December 14, 2017

The complete European guidelines on phenylketonuria: diagnosis and treatment.

The complete European guidelines on phenylketonuria: diagnosis and treatment.

Journal: Orphanet journal of rare diseases

Published: March 03, 2017

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Journal: Archives of disease in childhood

Published: January 18, 2017

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Journal: The lancet. Diabetes & endocrinology

Published: June 20, 2016

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Journal: Journal of inherited metabolic disease

Published: December 23, 2015

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

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

Journal: JIMD reports

Published: October 18, 2015

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

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

Journal: JIMD reports

Published: October 18, 2015

Newborn screening for homocystinuria.

Newborn screening for homocystinuria.

Journal: The Cochrane database of systematic reviews

Published: October 02, 2015

Impact of age at onset and newborn screening on outcome in organic acidurias.

Impact of age at onset and newborn screening on outcome in organic acidurias.

Journal: Journal of inherited metabolic disease

Published: August 27, 2015

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Last Updated: 09/26/2026