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Author Details

Andrew A M Morris
Alder Hey Children's NHS Foundation Trust
1994
123
40
PMIDPaper TitleJournal TitlePublished Year
38044746The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.J Inherit Metab Dis2023
35914810Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms.Life Sci Alliance2022
35722880Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.J Inherit Metab Dis2022
35460084Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.J Inherit Metab Dis2022
35358327Postauthorization safety study of betaine anhydrous.J Inherit Metab Dis2022
33295057Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.J Inherit Metab Dis2021
33691747Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.Orphanet J Rare Dis2021
33246156Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.J Steroid Biochem Mol Biol2021
30285085Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.Hum Mol Genet2019
31801588Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.Orphanet J Rare Dis2019
30097991Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.JIMD Rep2019
30773687Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.J Inherit Metab Dis2019
30911575Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.Ann Clin Transl Neurol2019
29331171The genotypic and phenotypic spectrum of MTO1 deficiency.Mol Genet Metab2018
29484149Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).Mol Autism2018
29506874MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.EBioMedicine2018
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
26976653Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.J Steroid Biochem Mol Biol2017
28251416Expanding the phenotype in argininosuccinic aciduria: need for new therapies.J Inherit Metab Dis2017
28424003Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.J Child Neurol2017
28468868Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.Arch Dis Child2017
29075935Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.Neurogenetics2017
27778219Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.J Inherit Metab Dis2017
26025547Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.J Inherit Metab Dis2016
26404458Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.JIMD Rep2016
27392079Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Am J Hum Genet2016
27325425Erratum 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.JIMD Rep2016
27412952The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease.J Med Genet2016
27132592Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Am J Hum Genet2016
26718813Recognition, assessment and management of hypoglycaemia in childhood.Arch Dis Child2016
27091925A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.J Med Genet2016
26759002When to Suspect and How to Diagnose Mitochondrial Disorders?Indian J Pediatr2016
26898294Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.JIMD Rep2016
25293719A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Eur J Hum Genet2015
26510951LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Brain2015
25512642Quantitative charge-tags for sterol and oxysterol analysis.Clin Chem2015
23714749Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.Eur J Hum Genet2014
25458521Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.Mol Genet Metab2014
25271621Cholestenoic acids regulate motor neuron survival via liver X receptors.J Clin Invest2014
25058219Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.JAMA2014
24114256Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.Eur J Pediatr2014
24268530Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.Mol Genet Metab2014
22846477Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma.Free Radic Biol Med2013
23829769SURF1 deficiency: a multi-centre natural history study.Orphanet J Rare Dis2013
23430491Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency.JIMD Rep2013
21712854Maternally inherited mitochondrial DNA disease in consanguineous families.Eur J Hum Genet2011
20819849The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Brain2010
19048296Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia.Pediatr Nephrol2009
19251978Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.J Med Genet2009
18828154Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.Hum Mutat2009
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Collaborators

Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 27
Newcastle University
Co-authored papers 22
Newcastle University
Co-authored papers 20
School of Clinical Medicine, University of Cambridge
Co-authored papers 8
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 6
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 5
Evelina London Children's Hospital
Co-authored papers 5
Guy's Hospital
Co-authored papers 5
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 4
Co-authored papers 4
Research Institute of Molecular Pathology
Co-authored papers 4
UCL Great Ormond Street Institute of Child Health
Co-authored papers 4
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 4
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 3
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Co-authored papers 3
University Children's Hospital, Paracelsus Medical University
Co-authored papers 3
St Mary's Hospital, Manchester University NHS Foundation Trust
Co-authored papers 3
Children's Hospital of Pittsburgh
Co-authored papers 3
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
King's College London
Co-authored papers 3
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
Institute of Human Development, University of Manchester
Co-authored papers 2
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
University of Manchester
Co-authored papers 2
University College Dublin
Co-authored papers 2
Paracelsus Medical University
Co-authored papers 2
Center for Undiagnosed Diseases, Stanford University
Co-authored papers 1
Stanford University School of Medicine
Co-authored papers 1
Hospital Reutlingen
Co-authored papers 1