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Showing 10453 - 10464 of 33387 results
Publication

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

R J Pomponio, T R Reynolds, H Cole, G A Buck, B Wolf

Publication

Amino acids in amniotic fluid in the second trimester of gestation.

W C Mesavage, S F Suchy, D L Weiner, C S Nance, D B Flannery, B Wolf

Publication

Rett syndrome revisited: a patient with biotin dependency.

C Bachmann, J Schaub, J P Colombo, B J Burri, L Sweetman, B Wolf

Publication

Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].

Danika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf

Publication

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.

B Wolf, G S Heard, L G Jefferson, V K Proud, W E Nance, K A Weissbecker

Publication

Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.

Christian Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf

Publication

Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood:

Laure Bottin, Sabine Prud'hon, Stéphanie Guey, Claire Giannesini, Barry Wolf, Kirit Pindolia, Bruno Stankoff