Journal of Inherited Metabolic Disease

Commentary: Neonatal onset in fatty acid oxidation disorders: How can we minimize morbidity and mortality?
pp. 619-623(5)
Author: Riudor E.

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
pp. 624-630(7)
Authors: Abdenur J.E.; Chamoles N.A.; Guinle A.E.; Schenone A.B.; Fuertes A.N.J.

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency
pp. 631-638(8)
Authors: Gibson K.M.; Wappner R.S.; Jooste S.; Erasmus E.; Mienie L.J.; Gerlo E.; Desprechins B.; De Meirleir L.

Methylmalonic acidaemia with bilateral globus pallidus involvement: A neuropathological study
pp. 639-644(6)
Authors: Larnaout A.; Mongalgi M.A.; Kaabachi N.; Khiari D.; Debbabi A.; Mebazza A.; Ben Hamida M.; Hentati F.

Lactic acidosis in long-chain fatty acid -oxidation disorders
pp. 645-654(10)
Authors: Ventura F.V.; Ruiter J.P.N.; IJlst L.; Tavares de Almeida I.; Wanders R.J.A.

Hunter disease in the Spanish population: Molecular analysis in 31 families
pp. 655-661(7)
Authors: Gort L.; Chabás A.; Coll M.J.

Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n-3 fatty acids
pp. 662-670(9)
Authors: Søvik O.; Månsson J.-E.; Bjørke Monsen A.-L.; Jellum E.; Berge R.K.

Hyperinsulinism and hyperammonaemia
pp. 671-673(3)
Authors: Al-Shamsan L.; Al-Essa M.; Al-Mutair A.; Al-Ashwal A.; Sakati N.; Ozand P.T.

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels
pp. 673-674(2)
Authors: Riudor E.; Arranz J.A.; Anguera R.; Salcedo S.; Roig M.; del Toro M.; Bahima C.; Martínez G.; Ribes A.; Vianey-Saban C.; Sentís M.

Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs
pp. 675-676(2)
Authors: Di Rocco M.; Buoncompagni A.; Gatton M.; Picco P.; Vignola S.; Borrone C.

Adult-onset arginase deficiency
pp. 677-678(2)
Authors: Cowley D.M.; Bowling F.G.; McGill J.J.; van Dongen J.; Morris D.

Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis
pp. 679-680(2)
Authors: Olcay L.; Gümrük F.; Bodurolu K.; Cokun T.; Tunçbilek E.

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome
pp. 681-682(2)
Authors: de Koning T.J.; Toet M.; Dorland L.; de Vries L.S.; van den Berg I.E.T.; Duran M.; Poll-The B.T.

3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance
pp. 683-685(3)
Authors: Holtmann M.H.; Galle P.R.; Stremmel W.; Mayatepek E.

A family with Leigh syndrome caused by the rarer T8993C mutation
pp. 685-686(2)
Authors: Chakrapani A.; Heptinstall L.; Walter J.

Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies
pp. 687-688(2)
Authors: Rolland M.O.; Guffon N.; Mandon G.; Divry P.

A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the -fucosidase gene
pp. 688-689(2)
Authors: Fleming C.J.; Sinclair D.U.; White E.J.; Winchester B.; Whiteford M.L.; Connor J.M.

Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene
pp. 690-691(2)
Authors: Goyette P.; Rosenblatt D.; Rozen R.

In vivo methods useful for therapy monitoring in lactic acidosis
pp. 691-692(2)
Authors: Schulze A.; Mayatepek E.; Langhans C.D.; Bachert P.; Ruitenbeek W.; Rating D.

Medium-chain acyl-CoA dehydrogenase deficiency in Spain
pp. 693-694(2)
Authors: Martínez G.; Ribes A.; Briones P.; Rodés M.; Baldellou A.; Pineda M.; Rodrigo C.; Lorente I.; García-Silva M.T.; Riudor E.; Jaraba P.; Lopez-Casas J.; Nuñez-Roldan A.

MS-PCR assay to detect 677CT mutation in the 5,10-methylenetetrahydrofolate reductase gene
pp. 694-695(2)
Authors: Hill A.E.; FitzPatrick D.R.