Dr John Walter
Secretary
Christine Caveney
Tel: 0161 701 2137
Publications
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolome MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafe L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard LA, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, Van der Knaap MS, Salomons GS.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum.Mutat. 2010.Walter JH.
Genes, patients, families, doctors-mutation analysis in clinical practice.
J Inherit.Metab Dis 2009;32:441-6.Walter JH.
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.
J Inherit.Metab Dis 2009;32:214-7.Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, Van der Knaap MS.
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Radiology 2009;251:856-65.Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarria L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM.
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Hum.Mutat. 2009;30:741-8.Walter JH, Patterson A, Till J, Besley GT, Fleming G, and Henderson MJ.
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
J Inherit.Metab Dis 2009;32:95-101.Ho G, Walter JH, Christodoulou J.
Costeff optic atrophy syndrome: New clinical case and novel molecular findings.
J Inherit.Metab Dis 2008;31:774.Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW.
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.
Neuromuscul.Disord. 2008;18:557-60.Jones S, Reed CA, Vijay S, Walter JH, Morris AA.
N-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.
J Inherit.Metab Dis 2008 (e-publ).Luder AS, Tanner SM, de la CA, Walter JH.
Amnionless (AMN) mutations in Imerslund-Grasbeck syndrome may be associated with disturbed vitamin B(12) transport into the CNS.
J Inherit.Metab Dis 2008.31:129.Ridout CK, Brown RM, Walter JH, Brown GK.
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Hum.Genet. 2008;124:187-93.Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, deKlerk JB, Gokcay G, Grunewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Muller E, Kolker S, Horster F.
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
J Inherit.Metab Dis 2008;31:361-7.Jameson E, Walter J.
Cardiac arrest secondary to long QT(C) in a child with propionic acidemia.
Pediatr.Cardiol. 2008;29:969-70.Walter J.
IEMs in adults.
J Inherit.Metab Dis 2007;30:627.Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
Glycogen storage disease type IX: High variability in clinical phenotype.
Mol.Genet.Metab 2007;92:88-99.Jones SA, Walter JH.
Diagnosis and treatment of severe metabolic acidosis.
Paediatrics and Child Health 2007;17:260-5.Santos L, Patterson A, Moreea SM, Lippiatt CM, Walter J, Henderson M.
Acute liver failure in pregnancy associated with maternal MCAD deficiency.
J Inherit.Metab Dis 2007;30:103.Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Marti-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Pediatr.Res. 2006;59:840-7.Santos L, Fiona WJ, Walter JH.
Dietary compliance in ornithine aminotransferase deficiency.
J Inherit.Metab Dis 2006;29:240.Saudubray JM, Sedel F, Walter JH.
Clinical approach to treatable inborn metabolic diseases: An introduction.
J Inherit.Metab Dis 2006;29:261-74.Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH.
Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
J Inherit.Metab Dis 2006;29:627-30.Walter JH, MacDonald A.
The use of amino acid supplements in inherited metabolic disease.
J Inherit.Metab Dis 2006;29:279-80.Lee PJ, Ridout D, Walter JH, Cockburn F.
Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.
Arch.Dis Child 2005;90:143-6.