Journal of Inherited Metabolic Disease

Research article

Increased fertility in a woman with classic galactosaemia
pp. 507-608(102)
Author: Kimonis V.

Mutation analysis in Turkish patients with hereditary fructose intolerance
pp. 523-526(4)
Authors: Dursun A.; Kalkanolu H.S.; Cokun T.; Tokatli A.; Bittner R.; Koçak N.; Yüce A.; Ozalp I.; Boehme H.-J.

Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease)
pp. 527-534(8)
Authors: Wierzbicki A.S.; Watts G.F.; Lynas J.; Winder A.F.; Wray R.

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId
pp. 535-545(11)
Authors: Sugie H.; Fukuda T.; Ito M.; Sugie Y.; Kojoh T.; Nonaka I.

Decreased half-life of insulin-like growth factor I in Rabson–Mendenhall syndrome
pp. 546-550(5)
Authors: Longo N.; Singh R.; Elsas L.J.

A case of PDH-E1 mosaicism in a male patient with severe metabolic lactic acidosis
pp. 551-559(9)
Authors: Seyda A.; Chun K.; Packman S.; Robinson B.H.

Phenotype variability in 130 adult patients with respiratory chain disorders
pp. 560-576(17)
Authors: Finsterer J.; Jarius C.; Eichberger H.; Jaksch M.

Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis
pp. 577-586(10)
Authors: Jansen S.M.; Groener J.E.M.; Jansen S.M.; Bax W.; Poorthuis B.J.H.M.

Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency
pp. 587-595(9)
Authors: Berry G.T.; Fukao T.; Mitchell G.A.; Mazur A.; Ciafre M.; Gibson J.; Kondo N.; Palmieri M.J.

Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L-DOPA
pp. 596-598(3)
Authors: Burlina A.P.; Baracchini C.; Carollo C.; Burlina A.B.

Successful pregnancy outcome in atypical hyperglycinaemia
pp. 599-600(2)
Authors: Ellaway C.J.; Mundy H.; Lee P.J.

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency
pp. 601-602(2)
Authors: Invernizzi F.; Burlina A.B.; Donadio A.; Giordano G.; Taroni F.; Garavaglia B.

Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis
pp. 603-604(2)
Authors: Hochman J.A.; Treem W.R.; Dougherty F.; Bentley R.C.

Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy
pp. 605-606(2)
Authors: Rubio-Gozalbo M.E.; van Waardenburg D.A.; Forget P.P.; Verrips A.; Vroomen P.C.A.J.