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Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation

Autor: A. Rossi, Roberto Della Casa, Simona Spadarella, Giovanna Muscogiuri, F. Balivo, Daniela Melis, Giancarlo Parenti, Mariacarolina Salerno, Rosario Pivonello, Generoso Andria, Pietro Formisano, Annamaria Colao

Publikováno v: Orphanet Journal of Rare Diseases

Background: In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-boun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a6cca84ba813493723558c7da098b68
http://hdl.handle.net/11386/4760504

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Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity

Autor: F. Balivo, Giancarlo Parenti, Mariacarolina Salerno, Giorgia Minopoli, A. Rossi, Roberto Della Casa, Daniela Melis, Generoso Andria

Publikováno v: Italian Journal of Pediatrics

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f804814e02d230b64402bc2637aac48c
http://hdl.handle.net/11588/614183

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Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b

Autor: A. Colao, C. Zuppaldi, G. Cotugno, Rossella Parini, Giancarlo Parenti, M. Cozzolino, R. Della Casa, Daniela Melis, Carlo Dionisi-Vici, Rosario Pivonello, Miriam Rigoldi, Generoso Andria, F. Balivo, A. Del Puente

Publikováno v: Hormone research in paediatrics. 81(1)

Background: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59e6dc597aa6ecf06a7d0e3dff9da99
https://pubmed.ncbi.nlm.nih.gov/24401800

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Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?

Autor: Giancarlo Parenti, M. R. Monsurrò, G. Andria, Alfonso Romano, Daniela Melis, F. Balivo, Gabriele Riccardi, Brunella Capaldo, R. Della Casa, Roberta Taurisano

Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f9690fa8f94a5a8b9b60464a252de3
http://hdl.handle.net/11386/4729940

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Type A Niemann-Pick disease. Description of three cases with delayed myelination

Autor: Arturo Brunetti, Daniela Melis, Michelina Sibilio, F. Bartiromo, Giancarlo Parenti, R Taurisano, F. Balivo, Ferdinando Caranci, Alessandra D'Amico, Raffaele Elefante, Sossio Cirillo

We describe three patients with type A Niemann-Pick disease (NPD-A). NPD-A is an autosomal recessive neuronal storage disease classified among the sphingolipidoses, characterized by accumulation of sphingomyelin in various tissues and in the brain. M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65deb935e07d0ed90edcf34b73e72815
http://hdl.handle.net/11588/505497

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The Growth Hormone-Insulin-like Growth Factor Axis in Glycogen Storage Disease Type 1: Evidence of Different Growth Patterns and Insulin-like Growth Factor Levels in Patients with Glycogen Storage Disease Type 1a and 1b

Autor: Giancarlo Parenti, Carolina Di Somma, Mariacarolina Salerno, F. Balivo, Daniela Melis, Pasquale Piccolo, Annamaria Colao, Roberto Della Casa, Rosario Pivonello, Generoso Andria

Publikováno v: The Journal of Pediatrics. 156:663-670.e1

Objectives To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1). Study design This was a prospective, case-control study. Ten patients with GSD1a and 7 patients with GS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15395a09c5097c031f9ca624257f52fe
https://doi.org/10.1016/j.jpeds.2009.10.032

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P-68 The GH-IGF axis in glycogen storage disease type 1 (GSD): Evidence of different growth patterns and IGF levels in patients with GSD1 A and GSD1 B

Autor: Daniela Melis, F. Balivo, Mariacarolina Salerno, C. Di Somma, Rosario Pivonello, A. Colao, G. Lombardi, Pasquale Piccolo, G. Andria, R. Della Casa, Giancarlo Parenti, Gianfranco Sebastio

Publikováno v: Growth Hormone & IGF Research. 18:S47

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d00443f79695ea8d80cdacc9959c9965
https://doi.org/10.1016/s1096-6374(08)70153-9

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