PMC Links for Books (Select 1465018) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 76492402.

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao, Patricie Burda, Davide Strambo, Thierry Kuntzer, Christel Tran

Front Neurol. 2020; 11: 516799. Published online 2020 Oct 26. doi: 10.3389/fneur.2020.516799

PMCID:: PMC7649240

Article PDF–331K

Select item 56802873.

Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency

Patrick Ferreira, Alicia Chan, Barry Wolf

JIMD Rep. 2017; 36: 117–120. Published online 2017 Feb 21. doi: 10.1007/8904_2017_12

PMCID:: PMC5680287

Article PDF–102K

Select item 54711554.

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

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

Mol Genet Metab Rep. 2015 Mar; 2: 81–84. Published online 2015 Feb 7. doi: 10.1016/j.ymgmr.2015.01.005

Correction in:: Mol Genet Metab Rep. 2017 Jun; 11: 95.

PMCID:: PMC5471155

Article PDF–424K

Select item 47893875.

First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice

Barry Wolf

Mol Genet Metab Rep. 2016 Mar; 6: 74–76. Published online 2016 Mar 2. doi: 10.1016/j.ymgmr.2016.02.006

PMCID:: PMC4789387

Article PDF–257K

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 17935697.

A biotinidase Km variant causing late onset bilateral optic neuropathy.

V T Ramaekers, T M Suormala, M Brab, R Duran, G Heimann, E R Baumgartner

Arch Dis Child. 1992 Jan; 67(1): 115–119. doi: 10.1136/adc.67.1.115

PMCID:: PMC1793569

Summary Page Browse PDF–1.4M

Select item 17790208.

Biotinidase deficiency: a survey of 10 cases.

H J Wastell, K Bartlett, G Dale, A Shein

Arch Dis Child. 1988 Oct; 63(10): 1244–1249. doi: 10.1136/adc.63.10.1244

PMCID:: PMC1779020

Summary Page Browse PDF–944K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity