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Volume 20, Number 5, September 1997

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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
pp. 619-624(6)
Authors: Guzzetta, V.; Bonapace, G.; Dianzani, I.; Parenti, G.; Lecora, M.; Giannattasio, S.; Concolino, D.; Strisciuglio, P.; Sebastio, G.; Andria, G.

Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
pp. 625-632(8)
Authors: Bargal, R.; Bach, G.

Human α-galactosidase A: High plasma activity expressed by the -30G→A allele
pp. 643-657(15)
Authors: Fitzmaurice, T.F.; desnick, R.J.; Bishop, D.F.

A new peroxisomal -oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids
pp. 658-664(7)
Authors: Christensen, E.; Pedersen, S.A.; Leth, H.; Jakobs, C.; Schutgens, R.B.H.; Wanders, R.J.A.

Peroxisomal localization of α-oxidation in human liver
pp. 665-673(9)
Authors: Casteels, M.; Croes, K.; van Veldhoven, P.P.; Mannaerts, G.P.

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy
pp. 674-680(7)
Authors: Marin-Garcia, J.; Ananthakrishnan, R.; Goldenthal, M.J.; Filiano, J.J.; Perez-Atayde, A.

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?
pp. 681-688(8)
Authors: Assmann, B.; Hoffmann, G.F.; Wagner, L.; Bräutigam, C.; Seyberth, H.W.; Duran, M.; van Kuilenburg, A.B.P.; Wevers, R.; van Gennip, A.H.

The association between haematological manifestation and mtDNA deletions in Pearson syndrome
pp. 697-703(7)
Authors: Muraki, K.; Nishimura, S.; Goto, Y.; Nonaka, I.; Sakura, N.; Ueda, K.

Heterogeneous presentation in Leigh syndrome
pp. 704-705(2)
Authors: Vilarinho, L.; Maia, C.; Coelho, T.; Coutinho, P.; Santorelli, F.M.

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine
pp. 705-706(2)
Authors: Steen, C.; Rosenblatt, D.S.; Scheying, H.; Braeuer, H.C.; Kohlschütter, A.

Biotinidase deficiency with neurological features resembling multiple sclerosis
pp. 707-708(2)
Authors: Tokatlι, A.; Coşkun, T.; Özalp, I.

Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease
pp. 709-710(2)
Authors: Byrne, C.D.; Bermann, L.; Constant, C.; Cox, T.M.

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency
pp. 711-712(2)
Authors: Yoshino, M.; Nishiyori, A.; Koga, Y.; Mizushima, Y.; Maeshiro, H.; Inoue, T.; Izumi, S.; Hatase, T.; Yakushiji, M.; Kato, H.

Carnitine-acylcarnitine translocase deficiency - a mild phenotype
pp. 714-715(2)
Authors: Olpin, S.E.; Bonham, J.R.; Downing, M.; Manning, N.J.; Pollitt, R.J.; Sharrard, M.J.; Tanner, M.S.

Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine
pp. 715-716(2)
Authors: Simoni, R.E.; Honório de Oliveira, C.P.; Braga, M.J.; Gayer de Menezes, C.R.; Llerena Jr, J.C.; Correia, P.S.; Santa Rosa, A.A.; Horovitz, D.G.; Chaves, C.R.M.; Costa de Oliveira, M.L.

Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency
pp. 719-720(2)
Authors: Holopainen, I.; Pulkki, K.; Heinonen, O.J.; Näntö-Salonen, K.; Haataja, L.; Greter, J.; Holme, E.; van Kuilenburg, A.B.P.; Vreken, P.; van Gennip, A.H.

Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands
pp. 723-724(2)
Authors: Lenicker, H.M.; Agius, P.V.; Young, E.P.; Montalto, S.P.A.

L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients
pp. 725-726(2)
Authors: Wanders, R.J.A.; Vilarinho, L.; Hartung, H.P.; Hoffmann, G.F.; Mooijer, P.A.W.; Jansen, G.A.; Huijmans, J.G.M.; de Klerk, J.B.C.; ten Brink, H.J.; Jakobs, C.; Duran, M.

Hyperphagia in patients with α-mannosidosis type II
pp. 727-728(2)
Authors: Owayed, A.; Clarke, J.T.R.

Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample
pp. 728-729(2)
Authors: Stankovics, J.; Molnár, D.; Burus, I.; Pintér, Z.

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