Kratz, Lisa

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., et al. (1999) · Nature Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 285

Abnormalities of cholesterol metabolism in autism spectrum disorders

Tierney, E., Bukelis, I., Thompson, R. E., Ahmed, K., Aneja, A., Kratz, L., & Kelley, R. I. (2006) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Autism Spectrum Disorder ResearchCholesterol and Lipid Metabolism

Cited by 163

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L. E., Glaser, R. L., Netzloff, M. L., Miller Wolf, L., & Jabs, E. W. (2002) · American Journal of Medical Genetics

Sexual Differentiation and DisordersCraniofacial Disorders and Treatments

Cited by 95

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J., & Porter, F. D. (2006) · Human Molecular Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 75

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Sandlers, Y., Moser, A. B., Hubbard, W. C., Kratz, L. E., Jones, R. O., & Raymond, G. V. (2012) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 38

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., et al. (2021) · Translational Psychiatry

Autism Spectrum Disorder ResearchLipoproteins and Cardiovascular Health

Cited by 26

Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder

Arunachal, G., Yoganathan, S., Kratz, L., Varman, M., Sudhakar, S., Oommen, S., Jain, S., Thomas, M., & Babuji, M. (2020) · Annals of Indian Academy of Neurology

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 5