• 5379 Citations
1975 …2019
If you made any changes in Pure, your changes will be visible here soon.

Personal profile

Training Experience

1976Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1978Fellowship, Yale University School of Medicine

Education/Academic qualification

MD, University of Illinois at Chicago College of Medicine

… → 1974

PhD, University of Illinois at Chicago College of Medicine

… → 1974

Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Biotinidase Deficiency Medicine & Life Sciences
Biotinidase Medicine & Life Sciences
Biotin Medicine & Life Sciences
Methylmalonyl-CoA Decarboxylase Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Amidohydrolases Medicine & Life Sciences
Propionic Acidemia Medicine & Life Sciences
Mutation Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1975 2019

Biotinidase Deficiency
Multiple Sclerosis
Optic Nerve Diseases
Quadriplegia
Spinal Cord Diseases

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

Ganapathi, M., Padgett, L. R., Yamada, K., Devinsky, O., Willaert, R., Person, R., Au, P. Y. B., Tagoe, J., McDonald, M., Karlowicz, D., Wolf, B., Lee, J., Shen, Y., Okur, V., Deng, L., LeDuc, C. A., Wang, J., Hanner, A., Mirmira, R. G., Park, M. H. & 2 othersMastracci, T. L. & Chung, W. K., Feb 7 2019, In : American Journal of Human Genetics. 104, 2, p. 287-298 12 p.

Research output: Contribution to journalArticle

Enzymes
deoxyhypusine hydroxylase
Translational Peptide Chain Initiation
Exome
Protein Biosynthesis
2 Citations (Scopus)

Adult-onset biotinidase deficiency: Two individuals with severe, but reversible optic neuropathy

Deschamps, R., Savatovsky, J., Vignal, C., Fisselier, M., Imbard, A., Wolf, B., Procter, M. & Gout, O., Sep 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 9, p. 1009-1010 2 p.

Research output: Contribution to journalLetter

Biotinidase Deficiency
Optic Nerve Diseases

Are we missing patients with biotinidase deficiency in France?

Deschamps, R., Stankoff, B., Vignal, C., Benoist, J. F., Wolf, B. & Gout, O., May 1 2018, In : Revue Neurologique. 174, 5, p. 273-274 2 p.

Research output: Contribution to journalEditorial

Biotinidase Deficiency
France
3 Citations (Scopus)

Biotinidase deficiency masquerading as multiple sclerosis?

Wolf, B., Feb 1 2018, In : Multiple Sclerosis. 24, 2, p. 237-238 2 p.

Research output: Contribution to journalLetter

Biotinidase Deficiency
Multiple Sclerosis