Cargando…

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. C...

Descripción completa

Detalles Bibliográficos
Autores principales:	Massese, Miriam, Tagliaferri, Francesco, Dionisi-Vici, Carlo, Maiorana, Arianna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208159/ https://www.ncbi.nlm.nih.gov/pubmed/35725468 http://dx.doi.org/10.1186/s13023-022-02387-6

Ejemplares similares

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
por: Tagliaferri, Francesco, et al.
Publicado: (2022)

Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders
por: Maiorana, Arianna, et al.
Publicado: (2023)

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
por: Ponzi, Emanuela, et al.
Publicado: (2019)

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
por: Marusic, Tatiana, et al.
Publicado: (2020)

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
por: Serrano-Lorenzo, Pablo, et al.
Publicado: (2022)

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)
por: Eghbali, Maryam, et al.
Publicado: (2020)

Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A)
por: Christen, Matthias, et al.
Publicado: (2021)

Safety of vaccines administration in hereditary fructose intolerance
por: Maiorana, Arianna, et al.
Publicado: (2020)

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI
por: Grünert, Sarah Catharina, et al.
Publicado: (2021)

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum
por: Kiely, Bridget T., et al.
Publicado: (2022)

Hypoglycaemia Metabolic Gene Panel Testing
por: Maiorana, Arianna, et al.
Publicado: (2022)

Liver Transplantation for Glycogen Storage Disease Type IV
por: Liu, Min, et al.
Publicado: (2021)

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme
por: Lim, Jeong-A, et al.
Publicado: (2020)

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
por: Kim, Jung Ah, et al.
Publicado: (2015)

Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene
por: Khan, Hamza Hassan, et al.
Publicado: (2020)

Glycogen storage disease type IV: a case report.
por: Lee, K. Y., et al.
Publicado: (1998)

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI
por: Wilson, Lane H., et al.
Publicado: (2019)

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
por: Choi, So Yoon, et al.
Publicado: (2018)

A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis
por: Arends, Charles J., et al.
Publicado: (2022)

The potential of dietary treatment in patients with glycogen storage disease type IV
por: Derks, Terry G. J., et al.
Publicado: (2020)

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report
por: Santoro, Lucia, et al.
Publicado: (2022)

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
por: Choi, Rihwa, et al.
Publicado: (2016)

SorGSD: a sorghum genome SNP database
por: Luo, Hong, et al.
Publicado: (2016)

DoGSD: the dog and wolf genome SNP database
por: Bai, Bing, et al.
Publicado: (2014)

Clinical and genetic spectrum of GSD type 6 in Korea
por: Hahn, Jong Woo, et al.
Publicado: (2023)

Observation of the exclusive decays \Xi^0_c -> \Lambda^0 K^0_s and \Xi^0_c -> \Xi^- \pi^+
por: Lesiak, T
Publicado: (1999)

Measurements of the $\Xi^0$ lifetime and the $\overline{\Xi^0}/\Xi^0$ flux ratio in a neutral beam
por: Batley, J Richard, et al.
Publicado: (2007)

Inclusive XI0, XI(1530)- and XI(1530)0 production in XI- Be interactions at 116 GeV/c
por: Schneider, O, et al.
Publicado: (1989)

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum
por: Aksu, Tolga, et al.
Publicado: (2012)

Observation of $\Xi_b^0 \rightarrow \Xi_c^+ D_s^-$ and $\Xi_b^- \rightarrow \Xi_c^0 D_s^-$ decays
por: Aaij, Roel, et al.
Publicado: (2023)

Cartilage contains mixed fibrils of collagen types II, IX, and XI
Publicado: (1989)

Erratum to: SorGSD: a sorghum genome SNP database
por: Luo, Hong, et al.
Publicado: (2016)

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?
por: Colonetti, Karina, et al.
Publicado: (2022)

Evidence for $\Xi_{c}^{0}$ in the exclusive decay channel $\Xi_{c}^{0}\ to \Xi^{-} \pi^{+}$ in DELPHI
por: Leinonen, L, et al.
Publicado: (2001)

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
por: Soggia, Ana Priscila, et al.
Publicado: (2010)

XI% resonances in XI-Be interactions ; 2, properties of XI(1820) and XI(1960) in the LAMBDA.$\overline{K}$0 and SIGMA0$\overline{K}$0 channels
por: Biagi, S F, et al.
Publicado: (1986)

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
por: Maiorana, Arianna, et al.
Publicado: (2015)

Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease
por: Hyer, Erin, et al.
Publicado: (2023)

Direct measurement of $\Xi^{-}$ and $\Xi^0$ mean lives
por: Jauneau, L, et al.
Publicado: (1963)

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature
por: Beyzaei, Zahra, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_l8169nbmhsof52d2vb80iannar