C. Hellerud

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

M. Durán, D. Lacombe, J. Sass, 2004, European Journal of Human Genetics.

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

S. Lindstedt, M. Adamowicz, E. Pronicka, 2003, Molecular genetics and metabolism.

Glycerol Metabolism and the Determination of Triglycerides –Clinical, Biochemical and Molecular Findings in Six Subjects

A. Burlina, C. Gabelli, C. Hellerud, 2003, Clinical chemistry and laboratory medicine.

Prenatal diagnosis of glycerol‐kinase deficiency associated with a DNA deletion on the short arm of the X‐chromosome

O. Søvik, K. Berg, C. Hellerud, 1987, Clinical genetics.

Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis

O. Hjalmarson, J. Waldenström, T. Martinsson, 2010, Journal of Inherited Metabolic Disease.

Glycerol kinase deficiency: follow‐up during 20 years, genetics, biochemistry and prognosis

S. Lindstedt, G. Samuelson, A. Erikson, 2004, Acta paediatrica.

‘Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms’

A. Das, T. Lücke, S. Illsinger, 2007, Developmental medicine and child neurology.

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita

L. Boyes, P. Clayton, G. Besley, 2008, Journal of Medical Genetics.

Acute Liver Failure in a Child With Epstein-Barr Virus Infection and Undiagnosed Glycerol Kinase Deficiency, Mimicking Hemophagocytic Lymphohistiocytosis

S. Lindstedt, A. Nordenström, A. Németh, 2008, Journal of pediatric gastroenterology and nutrition.