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For: Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Brain damage in glycogen storage disease type I. J Pediatr 2004;144:637-42. [PMID: 15127000 DOI: 10.1016/j.jpeds.2004.02.033] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/21/2023]
Number Cited by Other Article(s)
1
Aschner A, Kowal C, Arski O, Crispo JAG, Farhat N, Donner E. Prevalence of epileptiform electroencephalographic abnormalities in people without a history of seizures: A systematic review and meta-analysis. Epilepsia 2024;65:583-599. [PMID: 38101821 DOI: 10.1111/epi.17864] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/03/2023] [Revised: 12/12/2023] [Accepted: 12/12/2023] [Indexed: 12/17/2023]
2
Gümüş E, Özen H. Glycogen storage diseases: An update. World J Gastroenterol 2023;29:3932-3963. [PMID: 37476587 PMCID: PMC10354582 DOI: 10.3748/wjg.v29.i25.3932] [Citation(s) in RCA: 23] [Impact Index Per Article: 11.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/28/2022] [Revised: 02/15/2023] [Accepted: 04/30/2023] [Indexed: 06/28/2023]  Open
3
Iwanicka-Pronicka K, Trubicka J, Szymanska E, Ciara E, Rokicki D, Pollak A, Pronicki M. Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism. Int J Pediatr Otorhinolaryngol 2021;151:110970. [PMID: 34775139 DOI: 10.1016/j.ijporl.2021.110970] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/04/2020] [Revised: 10/15/2021] [Accepted: 11/08/2021] [Indexed: 10/19/2022]
4
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML. Neurological Characteristics of Pediatric Glycogen Storage Disease. Front Endocrinol (Lausanne) 2021;12:685272. [PMID: 34093448 PMCID: PMC8176209 DOI: 10.3389/fendo.2021.685272] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/24/2021] [Accepted: 04/28/2021] [Indexed: 11/13/2022]  Open
5
Bindi V, Eiroa HD, Crespo C, Martinez M, Bay L. Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina. JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING 2021. [DOI: 10.1590/2326-4594-jiems-2020-0028] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]  Open
6
Rosa-Silva HTD, Panzenhagen AC, Schmidtt V, Alves Teixeira A, Espitia-Pérez P, de Oliveira Franco Á, Mingori M, Torres-Ávila JF, Schnorr CE, Hermann PRS, Moraes DP, Almeida RF, Moreira JCF. Hepatic and neurobiological effects of foetal and breastfeeding and adulthood exposure to methylmercury in Wistar rats. CHEMOSPHERE 2020;244:125400. [PMID: 31809933 DOI: 10.1016/j.chemosphere.2019.125400] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/21/2019] [Revised: 10/20/2019] [Accepted: 11/17/2019] [Indexed: 06/10/2023]
7
Tommaso AMAD, Hessel G, Riccetto AG, Semenzati GDO, Gusmão RJ. PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1. REVISTA PAULISTA DE PEDIATRIA 2019;37:516-519. [PMID: 31291441 PMCID: PMC6821486 DOI: 10.1590/1984-0462/;2019;37;4;00005] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 12/10/2017] [Accepted: 04/29/2018] [Indexed: 11/22/2022]
8
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2019;21:772-789. [PMID: 30659246 DOI: 10.1038/s41436-018-0364-2] [Citation(s) in RCA: 77] [Impact Index Per Article: 12.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/24/2018] [Accepted: 10/15/2018] [Indexed: 01/10/2023]  Open
9
GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging. Eur J Paediatr Neurol 2018;22:1161-1164. [PMID: 30115503 DOI: 10.1016/j.ejpn.2018.02.002] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/25/2017] [Revised: 01/07/2018] [Accepted: 02/05/2018] [Indexed: 12/21/2022]
10
Rousseau-Nepton I, Huot C, Laforte D, Mok E, Fenyves D, Constantin E, Mitchell J. Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch. Mol Genet Metab 2018;123:326-330. [PMID: 29223626 DOI: 10.1016/j.ymgme.2017.09.003] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/22/2017] [Revised: 09/08/2017] [Accepted: 09/09/2017] [Indexed: 11/23/2022]
11
De Leon DD, Stanley CA. Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016. Pediatr Diabetes 2017;18:3-9. [PMID: 27753189 PMCID: PMC5473026 DOI: 10.1111/pedi.12453] [Citation(s) in RCA: 39] [Impact Index Per Article: 4.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/08/2016] [Accepted: 09/08/2016] [Indexed: 12/19/2022]  Open
12
In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders. Neurochem Res 2015;40:2647-85. [PMID: 26610379 DOI: 10.1007/s11064-015-1772-1] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/06/2015] [Revised: 11/10/2015] [Accepted: 11/12/2015] [Indexed: 01/09/2023]
13
Kroczka S, Biedroń A, Kaciński M. Epilepsy and electrophysiological findings in polish twins with glycogenosis type IIIb. Clin EEG Neurosci 2014;45:201-4. [PMID: 24357677 DOI: 10.1177/1550059413500276] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
14
El-Karaksy H, Anwar G, El-Raziky M, Mogahed E, Fateen E, Gouda A, El-Mougy F, El-Hennawy A. Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study. Arab J Gastroenterol 2014;15:63-67. [PMID: 25097048 DOI: 10.1016/j.ajg.2014.01.013] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/30/2013] [Revised: 01/09/2014] [Accepted: 01/20/2014] [Indexed: 10/25/2022]
15
Lerner DP, Dombrowski K. Focal neuronal dysfunction resulting in subclinical status epilepticus in von Gierke's disease. Int J Neurosci 2014;125:228-31. [PMID: 24825586 DOI: 10.3109/00207454.2014.923420] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
16
Shiohama T, Fujii K, Takahashi S, Nakamura F, Kohno Y. Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome. Pediatr Neurol 2013;49:493-6. [PMID: 24080273 DOI: 10.1016/j.pediatrneurol.2013.06.004] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/23/2013] [Revised: 06/05/2013] [Accepted: 06/09/2013] [Indexed: 11/30/2022]
17
Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases. J Diabetes Metab Disord 2013;12:25. [PMID: 23738826 PMCID: PMC3937210 DOI: 10.1186/2251-6581-12-25] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/29/2012] [Accepted: 05/27/2013] [Indexed: 01/01/2023]
18
Della Casa R, Ungaro C, Acampora E, Pignata C, Vajro P, Salerno M, Santamaria F, Parenti G. A case of galactosemia misdiagnosed as cow's milk intolerance. Ital J Pediatr 2012;38:47. [PMID: 22992216 PMCID: PMC3462687 DOI: 10.1186/1824-7288-38-47] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2012] [Accepted: 09/11/2012] [Indexed: 12/12/2022]  Open
19
Wyrwoll CS, Holmes MC, Seckl JR. 11β-hydroxysteroid dehydrogenases and the brain: from zero to hero, a decade of progress. Front Neuroendocrinol 2011;32:265-86. [PMID: 21144857 PMCID: PMC3149101 DOI: 10.1016/j.yfrne.2010.12.001] [Citation(s) in RCA: 178] [Impact Index Per Article: 12.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/03/2010] [Revised: 12/01/2010] [Accepted: 12/01/2010] [Indexed: 12/11/2022]
20
Boudjemline AM, Isapof A, Witas JB, Petit FM, Gajdos V, Labrune P. Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib. J Inherit Metab Dis 2010;33 Suppl 3:S477-80. [PMID: 21103936 DOI: 10.1007/s10545-010-9243-y] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/04/2010] [Revised: 09/27/2010] [Accepted: 10/20/2010] [Indexed: 10/18/2022]
21
Nutritional therapy for glycogen storage diseases. J Pediatr Gastroenterol Nutr 2008;47 Suppl 1:S15-21. [PMID: 18667910 DOI: 10.1097/mpg.0b013e3181818ea5] [Citation(s) in RCA: 39] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/10/2022]
22
Labrune P, Eberschweiler PT, Boudjemline AM, Hubert-Buron A, Petit F, Gajdos V. Histoire naturelle des glycogénoses avec atteinte hépatique. Presse Med 2008;37:1172-7. [DOI: 10.1016/j.lpm.2007.09.023] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/05/2007] [Revised: 09/05/2007] [Accepted: 09/26/2007] [Indexed: 12/01/2022]  Open
23
Dagdelen S, Atmaca A, Alikasifoglu A, Erbas T. Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. J Med Case Rep 2008;2:210. [PMID: 18564411 PMCID: PMC2435546 DOI: 10.1186/1752-1947-2-210] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2008] [Accepted: 06/18/2008] [Indexed: 11/10/2022]  Open
24
Weghuber D, Mandl M, Krssák M, Roden M, Nowotny P, Brehm A, Krebs M, Widhalm K, Bischof MG. Characterization of hepatic and brain metabolism in young adults with glycogen storage disease type 1: a magnetic resonance spectroscopy study. Am J Physiol Endocrinol Metab 2007;293:E1378-84. [PMID: 17785500 DOI: 10.1152/ajpendo.00658.2006] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
25
Autti T, Joensuu R, Aberg L. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology 2007;49:571-578. [PMID: 17334752 DOI: 10.1007/s00234-007-0220-6] [Citation(s) in RCA: 45] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/24/2006] [Accepted: 01/23/2007] [Indexed: 10/23/2022]
26
Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol 2007;13:2541-2553. [PMID: 17552001 PMCID: PMC4146814 DOI: 10.3748/wjg.v13.i18.2541] [Citation(s) in RCA: 173] [Impact Index Per Article: 9.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/30/2007] [Revised: 03/30/2007] [Accepted: 03/31/2007] [Indexed: 02/06/2023]  Open
27
Millichap JG. Brain Damage in Glycogen Storage Disease Type I. Pediatr Neurol Briefs 2004. [DOI: 10.15844/pedneurbriefs-18-6-10] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]  Open
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