Cargando…

Visual Loss in Biotinidase Deficiency

Detalles Bibliográficos
Autor principal:	Venugopal, Nataraja P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2020
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900731/ https://www.ncbi.nlm.nih.gov/pubmed/33688141 http://dx.doi.org/10.4103/aian.AIAN_503_19

Ejemplares similares

Comment on: Childhood optic atrophy in biotinidase deficiency
por: Venugopal, N, et al.
Publicado: (2016)

Management of anesthesia in biotinidase deficiency
por: Goktas, Ugur, et al.
Publicado: (2014)

Biotinidase deficiency: A treatable cause of infantile seizures
por: Bhardwaj, Parveen, et al.
Publicado: (2010)

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
por: Hsu, Rai-Hseng, et al.
Publicado: (2019)

Vitamin D deficiency in antiphospholipid syndrome
por: Venugopal, Nataraja Pillai
Publicado: (2016)

Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!
por: Ravikumar, Nagaraj Angadi, et al.
Publicado: (2023)

Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency
por: Wolf, Barry
Publicado: (2020)

Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency
por: Talebi, Hossein, et al.
Publicado: (2016)

Nutritional optic neuropathy: Diagnostic dilemma
por: Venugopal, Nataraja P
Publicado: (2022)

Screening of blind children - Its importance
por: Venugopal, Nataraja P
Publicado: (2022)

Cerebral venous sinus thrombosis: Diagnostic dilemma
por: Venugopal, Nataraja P
Publicado: (2022)

Biotinidase Deficiency: Prevalence, Impact And Management Strategies
por: Canda, Ebru, et al.
Publicado: (2020)

First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
por: Wolf, Barry
Publicado: (2016)

Atypical optic neuritis due to tuberculosis
por: Venugopal, Nataraja Pillai
Publicado: (2015)

Multiple Carboxylase Deficiency (Late Onset) Due to Deficiency of Biotinidase
por: Mukhopadhyay, Debadatta, et al.
Publicado: (2014)

Congenital biotinidase deficiency – MRI findings in two cases
por: Ranjan, Rahul S, et al.
Publicado: (2019)

Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency
por: Işeri-Erten, Sevgin Özlem, et al.
Publicado: (2016)

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings
por: Gowda, Vykuntaraju K., et al.
Publicado: (2023)

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis
por: Radelfahr, Florentine, et al.
Publicado: (2020)

Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity
por: Ghazal, Sumyya, et al.
Publicado: (2020)

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
por: Borsatto, Taciane, et al.
Publicado: (2014)

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
por: Borsatto, Taciane, et al.
Publicado: (2017)

Tetraparesis as an initial manifestation of biotinidase deficiency: a case report
por: Badour, Maysaa, et al.
Publicado: (2023)

Masking of Papilledema by Glaucoma
por: Venugopal, Nataraja Pillai, et al.
Publicado: (2018)

Nonarteritic Anterior Ischemic Optic Neuropathy and Stroke in Young
por: Venugopal, Nataraja Pillai, et al.
Publicado: (2019)

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency
por: AL-Eitan, Laith N., et al.
Publicado: (2020)

High frequency of biotinidase deficiency in Italian population identified by newborn screening
por: Funghini, Silvia, et al.
Publicado: (2020)

Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report
por: KOOHMANAEE, Shahin, et al.
Publicado: (2015)

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
por: Borsatto, Taciane, et al.
Publicado: (2017)

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
por: Mardhiah, M., et al.
Publicado: (2019)

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
por: Maguolo, Alice, et al.
Publicado: (2021)

Recovery of enzyme activity in biotinidase deficient individuals during early childhood
por: Forny, Patrick, et al.
Publicado: (2022)

Full-field perimetry for evaluation of glaucomatous (presumed) cup
por: Kummararaj, Govindarajan, et al.
Publicado: (2012)

Chemo-paralysis for removal of anterior chamber motile parasite
por: Venugopal, Nataraja Pillai, et al.
Publicado: (2014)

Optic neuritis in a child with biotinidase deficiency: case report and literature review
por: Hayati, Abdul-Aziz, et al.
Publicado: (2012)

Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series)
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2013)

Neonatal screening for biotinidase deficiency: A 30-year single center experience
por: Porta, Francesco, et al.
Publicado: (2017)

Comment on: Acute visual loss with ophthalmoplegia after spinal surgery - Acid Base imbalance induced glaucoma in pediatric patients
por: Venugopal, Natarajapillai
Publicado: (2015)

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children
por: Senanayake, Danika Nadeen, et al.
Publicado: (2015)

Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice
por: Brigolin, Christian, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_fhr7ge28u8aqu0pm6dqalomsmt