Cargando…

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase (ETFDH) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified 13 patients harboring six variants of two genes associated with GA-II. Out of the six variants, four were missense, and t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466204/ https://www.ncbi.nlm.nih.gov/pubmed/34573316 http://dx.doi.org/10.3390/genes12091334

Ejemplares similares

Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency
por: Ali, Amanat, et al.
Publicado: (2021)

Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene
por: Al Dhahouri, Nahid, et al.
Publicado: (2022)

Glutaric Aciduria Type 1: First Reported Cases in Three Saudi Patients
por: Coates, Robert, et al.
Publicado: (1994)

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
por: Al-Dirbashi, Osama Y., et al.
Publicado: (2019)

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates
por: Al-Shamsi, Aisha, et al.
Publicado: (2016)

Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
por: Peer‐Zada, Abdul Ali, et al.
Publicado: (2017)

Glutaric aciduria type1: CT diagnosis
por: Rai, Santosh P. V.
Publicado: (2009)

Audiological and otologic manifestations of glutaric aciduria type I
por: Chen, Yen-Chi, et al.
Publicado: (2020)

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation
por: Al Absi, Hebah S., et al.
Publicado: (2021)

Diagnosis and management of glutaric aciduria type I – revised recommendations
por: Kölker, Stefan, et al.
Publicado: (2011)

Glutaric aciduria type I: A treatable neurometabolic disorder
por: Kamate, Mahesh, et al.
Publicado: (2012)

A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1
por: Pusti, S., et al.
Publicado: (2014)

Clinical features and course of glutaric aciduria-Report of six cases
por: Chandra, Sadanandavalli Retnaswami, et al.
Publicado: (2015)

Intrathecal Baclofen for Hypertonia Secondary to Glutaric Aciduria Type I
por: Frenkel, Max, et al.
Publicado: (2020)

Glutaric Aciduria Type II With Ketosis in a Male Infant
por: Tandon, Krutika, et al.
Publicado: (2021)

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
por: Bozaci, Ayse Ergül, et al.
Publicado: (2023)

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases
por: Al Jasmi, Fatma, et al.
Publicado: (2020)

LINS, a modulator of the WNT signaling pathway, is involved in human cognition
por: Akawi, Nadia A, et al.
Publicado: (2013)

Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations
por: Park, June Dong, et al.
Publicado: (2010)

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy
por: Mohamed, Sarar, et al.
Publicado: (2015)

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult
por: Ersoy, Ebru Ortac, et al.
Publicado: (2015)

Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
por: Pode-Shakked, Ben, et al.
Publicado: (2014)

Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy
por: Sharawat, Indar K., et al.
Publicado: (2018)

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients
por: Vester, Marloes E.M., et al.
Publicado: (2016)

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey
por: Bernstein, Laurie, et al.
Publicado: (2020)

Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management
por: Cornelius, Leema P., et al.
Publicado: (2021)

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings
por: Sen, Anitha, et al.
Publicado: (2011)

Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China
por: Yang, Lili, et al.
Publicado: (2011)

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I
por: Zinnanti, William J, et al.
Publicado: (2014)

A novel ETFB mutation in a patient with glutaric aciduria type II
por: Sudo, Yosuke, et al.
Publicado: (2015)

Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC
por: Huang, Lingtong, et al.
Publicado: (2022)

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
por: Sousa Martins, Rute, et al.
Publicado: (2022)

Renal Involvement in Methylmalonic Aciduria
por: Alkhunaizi, Ahmed M., et al.
Publicado: (2017)

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1
por: Abdul Wahab, Siti Aishah, et al.
Publicado: (2016)

Anesthetic Management for Fracture Head of Radius in a Child with Glutaric Aciduria type-1
por: Mehta, Nandita, et al.
Publicado: (2018)

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I
por: Yoganathan, Sangeetha, et al.
Publicado: (2017)

A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus
por: Rajani, Heena, et al.
Publicado: (2018)

What are the information needs of parents caring for a child with Glutaric aciduria type 1?
por: Piercy, Hilary, et al.
Publicado: (2019)

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
por: Vester, Marloes E. M., et al.
Publicado: (2015)

Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations
por: PIRZADEH, Zahra, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_17o5t41dnevnl7idnp6kmgqqee