DOI: 10.1055/s-00000041


Issue 03 · Volume 32 · June 2001 DOI: 10.1055/s-002-1121

Review Article

Haas, Dorothea; Kelley, R. I.; Hoffmann, G. F.: Inherited Disorders of Cholesterol Biosynthesis


Original Article

Bamiou, Doris-Eva; Campbell, Pauline; Liasis, Alki; Page, J.; Sirimanna, T.; Boyd, S.; Vellodi, A.; Harris, C.: Audiometric Abnormalities in Children with Gaucher Disease Type 3
Gücüyener, K.; Özgül, Köksal; Paternotte, Caroline; Erdem, H.; Prud'homme, J. F.; Özgüç, M.; Topaloğlu, H.: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families

Short Communication

Parano, E.; Falcidia, E.; Grillo, A.; Takabayashi, H.; Trifiletti, R. R.; Pavone, P.: Fetal Nucleated Red Blood Cell Counts in Peripheral Blood of Mothers Bearing Down Syndrome Fetus
Gauthier-Villars, Marion; Landrieu, P.; Cormier-Daire, Valérie; Jacquemin, E.; Chrétien, D.; Rötig, Agnès; Rustin, P.; Munnich, A.; de Lonlay, Pascale: Respiratory Chain Deficiency in Alpers Syndrome
Soto-Ares, G.; Vinchon, M.; Delmaire, Ch.; Pruvo, J. P.; Vallee, L.; Dhellemes, P.: Report of Eight Cases of Occipital Dermal Sinus: An Update, and MRI Findings
Schwartzman, J. S.; Bernardino, Andrea; Nishimura, Agnes; Gomes, Raquel R.; Zatz, Mayana: Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene

Letter to the Editor