Muntau, Ania C.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., et al. (2013) · The American Journal of Human Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 138

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

Maier, E. M., Kammerer, S., Muntau, A. C., Wichers, M., Braun, A., & Roscher, A. A. (2002) · Annals of Neurology

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 72

Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p

Gloeckner, C. J., Mayerhofer, P. U., Landgraf, P., Muntau, A. C., Holzinger, A., Gerber, J.-K., Kammerer, S., Adamski, J., & Roscher, A. A. (2000) · Biochemical and Biophysical Research Communications

Metabolism and Genetic DisordersCellular transport and secretion

Cited by 57

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

Maier, E. M., Mayerhofer, P. U., Asheuer, M., Köhler, W., Rothe, M., Muntau, A. C., Roscher, A. A., Holzinger, A., Aubourg, P., & Berger, J. (2008) · Biochemical and Biophysical Research Communications

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 34