E-LIB Suche - Ergebnisse für: Wolf, Barry

1

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024

Link: https://doi.org/10.1016/..

2

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024

Link: https://doi.org/10.1016/..

3

Biotinidase deficiency: What have we learned in forty years:

Tankeu, Aurel T. ; Van Winckel, Geraldine ; Elmers, Jolanda...
Molecular Genetics and Metabolism. 138 (2023) 4 - p. 107560 , 2023

Link: https://doi.org/10.1016/..

4

Revisiting the administration of biotin to children with bi..:

Wolf, Barry
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 225-227 , 2022

Link: https://doi.org/10.1016/..

5

Biotinidase deficiency is a rare, potentially treatable cau..:

Kellom, Elizabeth ; Stepien, Kimberly ; Rice, Gregory.
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100696 , 2021

Link: https://doi.org/10.1016/..

6

List of contributors:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Ah Mew, Nicholas ; Akamatsu, Wado ; Akman, Hasan Orhan... - p. xvii-xx , 2020

Link: https://doi.org/10.1016/..

7

Any individual with multiple sclerosis who markedly improve..:

Wolf, Barry
Multiple Sclerosis Journal - Experimental, Translational and Clinical. 6 (2020) 2 - p. 205521732092313 , 2020

Link: https://doi.org/10.1177/..

8

Inherited biotin-responsive disorders:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Wolf, Barry - p. 699-710 , 2020

Link: https://doi.org/10.1016/..

9

Severe Distal Motor Involvement in a Non-compliant Adult Wi..:

Van Winckel, Géraldine ; Ballhausen, Diana ; Wolf, Barry...
Frontiers in Neurology. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

10

Response to comment on "High doses of biotin can interfere ..:

Wolf, Barry
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100511 , 2019

Link: https://doi.org/10.1016/..

11

High doses of biotin can interfere with immunoassays that u..:

Wolf, Barry
Molecular Genetics and Metabolism. 127 (2019) 4 - p. 321-324 , 2019

Link: https://doi.org/10.1016/..

12

Biotinidase deficiency should be considered in individuals ..:

Wolf, Barry
Multiple Sclerosis and Related Disorders. 28 (2019) - p. 26-30 , 2019

Link: https://doi.org/10.1016/..

13

Erratum: Laboratory diagnosis of biotinidase deficiency, 20..:

Strovel, Erin T. ; Cowan, Tina M. ; Scott, Anna I..
Genetics in Medicine. 20 (2018) 2 - p. 282 , 2018

Link: https://doi.org/10.1038/..

14

"Think metabolic" in adults with diagnostic challenges: Bio..:

Wolf, Barry
Neurology Clinical Practice. 7 (2017) 6 - p. 518-522 , 2017

Link: https://doi.org/10.1212/..

15

Corrigendum to "First contiguous gene deletion causing biot..:

Senanayake, Danika Nadeen ; Jasinge, Eresha A. ; Pindolia, Kirit...
Molecular Genetics and Metabolism Reports. 11 (2017) - p. 95 , 2017

Link: https://doi.org/10.1016/..