Cargando…

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of thi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Szymańska, Edyta, Jezela-Stanek, Aleksandra, Bogdańska, Anna, Rokicki, Dariusz, Ehmke vel Emczyńska-Seliga, Ewa, Pajdowska, Magdalena, Ciara, Elżbieta, Tylki-Szymańska, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598207/ https://www.ncbi.nlm.nih.gov/pubmed/32977617 http://dx.doi.org/10.3390/diagnostics10100738

Ejemplares similares

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
por: Wesół-Kucharska, Dorota, et al.
Publicado: (2020)

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
por: Pokora, Paulina, et al.
Publicado: (2018)

Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
por: Zaunseder, Elaine, et al.
Publicado: (2023)

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
por: Cho, Jin Min, et al.
Publicado: (2013)

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany
por: Murko, Simona, et al.
Publicado: (2022)

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
por: Bogdańska, Anna, et al.
Publicado: (2021)

Aspects of Newborn Screening in Isovaleric Acidemia
por: Schlune, Andrea, et al.
Publicado: (2018)

Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up
por: Szymańska, Edyta, et al.
Publicado: (2015)

Genetic Elucidation of Human Hyperosmia to Isovaleric Acid
por: Menashe, Idan, et al.
Publicado: (2007)

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
por: Grünert, Sarah C, et al.
Publicado: (2012)

Angelman syndrome and isovaleric acidemia: What is the link?
por: Lambrecht, Alix, et al.
Publicado: (2015)

Dietary practices in isovaleric acidemia: A European survey
por: Pinto, A., et al.
Publicado: (2017)

Case of isovaleric acidaemia for cataract surgery: Anaesthetic implications
por: Kelkar, Kalpana Vinod, et al.
Publicado: (2016)

Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
por: Kaczor, Magdalena, et al.
Publicado: (2022)

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
por: Lipiński, Patryk, et al.
Publicado: (2021)

Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report
por: Kılıç, Mustafa, et al.
Publicado: (2014)

Atypical MR lenticular signal change in infantile isovaleric acidemia
por: Wani, Nisar A, et al.
Publicado: (2016)

Two New Cinnamyl Isovalerate Derivatives from Sabina gaussenii
por: Sun, Zhang-Hua, et al.
Publicado: (2016)

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism
por: Khan, Adnan, et al.
Publicado: (2020)

Tyrosinemia type III in an asymptomatic girl
por: Szymanska, Edyta, et al.
Publicado: (2015)

Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
por: Batycka, Małgorzata, et al.
Publicado: (2023)

Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland
por: Kaczor, Magdalena, et al.
Publicado: (2022)

Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia
por: Mantadakis, Elpis, et al.
Publicado: (2013)

Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia
por: Sezer, Taner, et al.
Publicado: (2016)

Isovaleric acid ameliorates ovariectomy‐induced osteoporosis by inhibiting osteoclast differentiation
por: Cho, Kwang Min, et al.
Publicado: (2021)

Neonatal isovaleric acidemia in China: A case report and review of literature
por: Wu, Fang, et al.
Publicado: (2021)

Bacterial Volatile Isovaleric Acid Triggers Growth Alteration of Arabidopsis Seedlings
por: Murata, Jun, et al.
Publicado: (2022)

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
por: Mitusińska, Karolina, et al.
Publicado: (2022)

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
por: Lipiński, Patryk, et al.
Publicado: (2021)

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2
por: Szymańska, Edyta, et al.
Publicado: (2015)

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience
por: Szymańska, Edyta, et al.
Publicado: (2020)

ATP6AP1‐CDG: Follow‐up and female phenotype
por: Lipiński, Patryk, et al.
Publicado: (2020)

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2019)

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
por: Ding, Si, et al.
Publicado: (2022)

Mouse Models for Methylmalonic Aciduria
por: Peters, Heidi L., et al.
Publicado: (2012)

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

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
por: Sag, Elif, et al.
Publicado: (2017)

Editorial: Inherited Protein Glycosylation Defects in Humans
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022)

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

The 3-methylglutaconic acidurias: what’s new?
por: Wortmann, Saskia B., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_9tlls08u7p8u376k870o0spfaj