Detalles de la búsqueda
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38531365
2.
Biotinidase deficiency: What have we learned in forty years?
Mol Genet Metab
; 138(4): 107560, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37027963
3.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 287-298, 2019 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30661771
4.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38749428
5.
Revisiting the administration of biotin to children with biotin-responsive disorders.
Mol Genet Metab
; 137(1-2): 225-227, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35843775
6.
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 20(2): 282, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29240078
7.
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Genet Med
; 19(4): 396-402, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27657684
8.
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 19(10)2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28682309
9.
Developmental window of sensorineural deafness in biotinidase-deficient mice.
J Inherit Metab Dis
; 40(5): 733-744, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28516283
10.
Forty-eight novel mutations causing biotinidase deficiency.
Mol Genet Metab
; 117(3): 369-72, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26810761
11.
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
J Neuroophthalmol
; 41(1): e27-e30, 2021 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32235217
12.
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
Genet Med
; 17(3): 205-9, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25144890
13.
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Mol Genet Metab
; 116(3): 113-8, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26358973
14.
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Mult Scler
; 21(12): 1604-7, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26203071
15.
High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders.
Mol Genet Metab
; 127(4): 321-324, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31320189
16.
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.
Mol Genet Metab
; 112(1): 49-56, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24630269
17.
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
J Neurol Neurosurg Psychiatry
; 89(9): 1009-1010, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29025919
18.
Biotinidase deficiency masquerading as multiple sclerosis?
Mult Scler
; 24(2): 237-238, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28337933
19.
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
J Pediatr Hematol Oncol
; 40(1): 82, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28991128
20.
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
Neurobiol Dis
; 47(3): 428-35, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22579707