Huffnagel, Irene C.

Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history

Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 275

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration

Huffnagel, I. C., Laheji, F. K., Aziz-Bose, R., Tritos, N. A., Marino, R., Linthorst, G. E., Kemp, S., Engelen, M., & Eichler, F. (2019) · The Journal of Clinical Endocrinology & Metabolism

Metabolism and Genetic DisordersAdrenal Hormones and Disorders

Cited by 147

Disease progression in women with X-linked adrenoleukodystrophy is slow

Huffnagel, I. C., Dijkgraaf, M. G. W., Janssens, G. E., van Weeghel, M., van Geel, B. M., Poll-The, B. T., Kemp, S., & Engelen, M. (2019) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 100

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

Huffnagel, I. C., van de Beek, M.-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., et al. (2017) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 71

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): A randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial

Köhler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., Salsano, E., Gamez, J., Molnar, M. J., Pascual, S., et al. (2023) · The Lancet Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48