Barth, P. G.
Amsterdam UMC Location University of Amsterdam · Emma Kinderziekenhuis · University of Amsterdam
10 papers on CoChatORCID 0000-0002-9025-5677
Most cited papers
- Verified
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
van Geel, B. M., Assies, J., Wanders, R. J. A., & Barth, P. G. (1997) · Journal of Neurology, Neurosurgery & Psychiatry
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 162
- Verified
Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"
van Geel, B. M., Assies, J., Haverkort, E. B., Koelman, J. H. T. M., Verbeeten, B., Wanders, R. J. A., & Barth, P. G. (1999) · Journal of Neurology, Neurosurgery & Psychiatry
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 131
- Verified
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
Bams-Mengerink, A. M., Majoie, C. B. L. M., Duran, M., Wanders, R. J. A., Van Hove, J., Scheurer, C. D., Barth, P. G., & Poll-The, B. T. (2006) · Neurology
Metabolism and Genetic DisordersFetal and Pediatric Neurological Disorders
Cited by 97
- Verified
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 97
- Verified
Predominance of the adrenomyeloneuropathy phenotype of X‐linked adrenoleukody strophy in the Netherlands: A survey of 30 kindreds
van Geel, B. M., Assies, J., Weverling, G. J., & Barth, P. G. (1994) · Neurology
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 90
- Verified
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutations
Kemp, S., Ligtenberg, M. J. L., Vangeel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., Vanoost, B. A., & Bolhuis, P. A. (1994) · Biochemical and Biophysical Research Communications
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 75
- Verified
The neurology of rhizomelic chondrodysplasia punctata
Bams-Mengerink, A. M., Koelman, J. H., Waterham, H., Barth, P. G., & Poll-The, B. T. (2013) · Orphanet Journal of Rare Diseases
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 59
- Verified
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
Barth, P. G., Majoie, C. B. L. M., Gootjes, J., Wanders, R. J. A., Waterham, H. R., van der Knaap, M. S., de Klerk, J. B. C., Smeitink, J., & Poll-The, B. T. (2004) · Neurology
Metabolism and Genetic DisordersHereditary Neurological Disorders
Cited by 43
- Verified
ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
Kemp, S., Mooyer, P. A. W., Bolhuis, P. A., van Geel, B. M., Mandel, J. L., Barth, P. G., Aubourg, P., & Wanders, R. J. A. (1996) · Journal of Inherited Metabolic Disease
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 37
- Verified
Delay in diagnosis of X-linked adrenoleukodystrophy
van Geel, B. M., Assies, J., Haverkort, E. B., Barth, P. G., Wanders, R. J. A., Schutgens, R. B. H., Keyser, A., & Zwetsloot, C. P. (1993) · Clinical Neurology and Neurosurgery
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 26
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