J. Baumkötter

Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease.

M. Cantz, C. Rosenau, B. Ulrich-Bott, 1988, The Biochemical journal.

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

J. Zschocke, S. Kölker, G. Hoffmann, 2007, Pediatric Research.

Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease

R. Fingerhut, R. Ratschmann, U. Wendel, 2006, Journal of Inherited Metabolic Disease.

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

K. Gempel, K. Gerbitz, M. Bauer, 2001, European Journal of Pediatrics.

Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease.

W. Schlote, K. Wolburg-Buchholz, K. Harzer, 1985, Neuropediatrics.

Decreased ganglioside neuraminidase activity in fibroblasts from mucopolysaccharidosis patients. Inhibition of the activity in vitro by sulfated glycosaminoglycans and other compounds.

M. Cantz, J. Baumkötter, 1983, Biochimica et biophysica acta.

N-Acetylneuraminic acid storage disease

H. Friebolin, W. Baumann, J. Spranger, 2004, Human Genetics.

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

J. Hustin, E. Jauniaux, G. Strecker, 1986, Prenatal diagnosis.