Cargando…

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Detalles Bibliográficos
Autores principales:	Szymańska, Edyta, Szymańska, Sylwia, Truszkowska, Grażyna, Ciara, Elżbieta, Pronicki, Maciej, Shin, Yoon S., Podskarbi, Teodor, Kępka, Alina, Śpiewak, Mateusz, Płoski, Rafał, Bilińska, Zofia T., Rokicki, Dariusz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Termedia Publishing House 2017
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778435/ https://www.ncbi.nlm.nih.gov/pubmed/29379554 http://dx.doi.org/10.5114/aoms.2018.72246

Ejemplares similares

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)

Tyrosinemia type III in an asymptomatic girl
por: Szymanska, 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)

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy
por: Ługowska, Agnieszka, et al.
Publicado: (2021)

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant
por: Chmielewski, Przemysław, 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)

Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management
por: Szymańska, Edyta, et al.
Publicado: (2019)

The impact of induction therapy with three doses of infliximab on deep histological healing in paediatric patients with active Crohn’s disease
por: Szymanska, Edyta, et al.
Publicado: (2016)

Adalimumab for endoscopic and histopathological mucosal healing in paediatric patients with moderate to severe Crohn’s disease
por: Szymanska, Edyta, et al.
Publicado: (2016)

Virginal breast hypertrophy in a patient with Beckwith–Wiedemann syndrome
por: Szymańska, Edyta, et al.
Publicado: (2018)

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria
por: Szymańska, Edyta, et al.
Publicado: (2020)

Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report
por: Zakrzewska-Koperska, Joanna, et al.
Publicado: (2018)

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
por: Franaszczyk, Maria, et al.
Publicado: (2020)

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

A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family
por: Michalak, Ewa, et al.
Publicado: (2019)

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

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections
por: Ponińska, Joanna Kinga, et al.
Publicado: (2022)

An unusual case of massive hepatosplenomegaly
por: Sagar, Amitabh, et al.
Publicado: (2013)

Rash and hepatosplenomegaly in a newborn
por: Kitt, Eimear, et al.
Publicado: (2017)

A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation
por: Zakrzewska‐Koperska, Joanna, et al.
Publicado: (2020)

Demographic characteristics of children with early clinical manifestation of inflammatory bowel disease
por: Szymańska, Edyta, et al.
Publicado: (2015)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
por: Truszkowska, Grażyna T., et al.
Publicado: (2017)

Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease
por: Ponińska, Joanna Kinga, et al.
Publicado: (2023)

Asymptomatic hepatosplenomegaly in chronic myeloid leukemia
por: Imataki, Osamu, et al.
Publicado: (2018)

Biological markers of disease activity in inflammatory bowel diseases
por: Szymanska, Edyta, et al.
Publicado: (2023)

An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient
por: Barootes, Hailey C., et al.
Publicado: (2021)

Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
por: Chmielewski, Przemysław, et al.
Publicado: (2021)

A different background of arrhythmia in siblings with a positive family history of sudden death at young age
por: Stępień‐Wojno, Małgorzata, et al.
Publicado: (2019)

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
por: Chmielewski, Przemyslaw, et al.
Publicado: (2020)

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
por: Ciara, E., et al.
Publicado: (2016)

Multisystemic Sarcoidosis Revealed by Hepatosplenomegaly: A Case Report
por: El Rhaoussi, Fatima Zahra, et al.
Publicado: (2022)

A patient with leishmaniasis presenting with longstanding pancytopenia and hepatosplenomegaly
por: Onsongo, Simon, et al.
Publicado: (2023)

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
por: Lipiński, Patryk, et al.
Publicado: (2022)

Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation
por: Kryczka, Karolina E., et al.
Publicado: (2018)

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)

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
por: Pronicka, Ewa, et al.
Publicado: (2016)

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

The importance of anti-transglutaminase IgA antibody detection in the diagnosis of celiac disease – case report of an inappropriate diagnostic approach
por: Szymańska, Edyta, et al.
Publicado: (2015)

Case Report: Brentuximab Vedotin Associated Acute Pancreatitis in a Pediatric Hodgkin Lymphoma Patient: Case Report and Literature Review
por: Truszkowska, Ewelina, et al.
Publicado: (2022)

Gaucher disease in an adult: A rare cause of hepatosplenomegaly in adults
por: Karakus, Volkan, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_emn9j9k4dvrtlhni940u4kegeo