Schulze, Andreas

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 557

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

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia

Minutti, C. Z., Lacey, J. M., Magera, M. J., Hahn, S. H., McCann, M., Schulze, A., Cheillan, D., Dorche, C., Chace, D. H., Lymp, J. F., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersMetabolism and Genetic Disorders

Cited by 154

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu, S., van Karnebeek, C., Longo, N., Korenke, G. C., Mercimek-Mahmutoglu, S., Marquart, I., Barshop, B., Grolik, C., Schlune, A., Angle, B., et al. (2014) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 145

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

Ensenauer, R., Thiel, T., Schwab, K. O., Tacke, U., Stöckler-Ipsiroglu, S., Schulze, A., Hennig, J., & Lehnert, W. (2004) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 71

Creatine and Creatine Kinase in Health and Disease – A Bright Future Ahead?

Wyss, M., Braissant, O., Pischel, I., Salomons, G. S., Schulze, A., Stockler, S., & Wallimann, T. (2007) · Subcellular Biochemistry

Muscle metabolism and nutritionMetabolism and Genetic Disorders

Cited by 46

Spectrophotometric Microassay for δ-Aminolevulinate Dehydratase in Dried-Blood Spots as Confirmation for Hereditary Tyrosinemia Type I

Schulze, A., Frommhold, D., Hoffmann, G. F., & Mayatepek, E. (2001) · Clinical Chemistry

Metabolism and Genetic DisordersPorphyrin Metabolism and Disorders

Cited by 37

The effect of creatine supplementation on muscle function in childhood myositis: a randomized, double-blind, placebo-controlled feasibility study

Dover, S., Stephens, S., Schneiderman, J. E., Pullenayegum, E., Wells, G. D., Levy, D. M., Marcuz, J.-A., Whitney, K., Schulze, A., Tein, I., et al. (2021) · The Journal of Rheumatology

Inflammatory Myopathies and DermatomyositisMuscle metabolism and nutrition

Cited by 18

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder

Cameron, J. M., Levandovskiy, V., Roberts, W., Anagnostou, E., Scherer, S., Loh, A., & Schulze, A. (2017) · International Journal of Molecular Sciences

Autism Spectrum Disorder ResearchMetabolism and Genetic Disorders

Cited by 15