Malattia di Pompe (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Malattia di Pompe" in Italian language version.

refsWebsite

Global rank Italian rank

23doi.org

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14nih.gov

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3ojrd.com

low place

3web.archive.org

1^st place

2wiley.com

222^nd place

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2sciencedirect.com

149^th place

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1oadoi.org

799^th place

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1erasmusmc.nl

low place

1eurekaselect.com

low place

1medscape.com

719^th place

799^th place

1comune.verona.it

low place

1,867^th place

1nobelprize.org

301^st place

270^th place

1nature.com

234^th place

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1europa.eu

68^th place

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1youtube.com

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1telethon.it

low place

7,350^th place

comune.verona.it

ufficiostampa.comune.verona.it

Dal DNA di Cangrande la verità sulla sua morte, su ufficiostampa.comune.verona.it. URL consultato il 24 maggio 2021.

doi.org

dx.doi.org

AANEM, Diagnostic criteria for late-onset (childhood and adult) pompe disease, in Muscle Nerve, vol. 40, n. 1, 2009, pp. 149-60, DOI:10.1002/mus.21393.
Van der Ploeg AT, Reuser AJ, Pompe's disease, in Lancet, vol. 372, n. 9646, 2008, pp. 1342-53, DOI:10.1016/S0140-6736(08)61555-X.
Wang RY, Bodamer OA, Watson MS, et al, Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals, in Genet Med, vol. 13, n. 5, 2001, pp. 457-484, DOI:10.1097/GIM.0b013e318211a7e1, PMID 21502868.
Gungor D, Reuser AJ, How to describe the clinical spectrum in Pompe disease?, in Am J Med Genet Part A, 161A, n. 2, 2013, pp. 399–400, DOI:10.1002/ajmg.a.35662, PMID 23300052.
Van deer Beck N, de Vries JM, Hagemans M, et al, Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study, in Orphanet J Rare Dis, vol. 7, n. 88, 2012, DOI:10.1186/1750-1172-7-88.
Filosto M, Cotelli MS, Vielmi V, et al, Late-Onset Glycogen Storage Disease Type 2, in Current Molecular Medicine, vol. 14, n. 8, 2014, pp. 971-978, DOI:10.2174/1566524014666141010131649.
Colburn R e Lapidus D, An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion, in Frontiers in Pediatrics, vol. 11, 2024, DOI:10.3389/fped.2023.1221140, PMC 10810242, PMID 38274468.
Kishnani PS, Steiner RD, Bali D, et al., Pompe disease diagnosis and management guideline, in Genet Med, vol. 8, n. 5, 2006, pp. 267-288, DOI:10.1097/01.gim.0000218152.87434.f3, PMID 16702877.
Kyriakides T, Angelini C, Schaefer J, et al, EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia, in Eur J Neurol, vol. 17, 2010, pp. 767-773, DOI:10.1111/j.1468-1331.2010.03012.x.
Hirschhorn R, Reuser A, Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (Acid Maltase) Deficiency, in The Metabolic and Molecular Bases of Inherited Disease, 2001, pp. 3389-3420, DOI:10.1036/ommbid.164. URL consultato il 26 marzo 2015 (archiviato dall'url originale il 4 marzo 2016).
Vissing J, Lukacs Z, Straub V, Diagnosis of Pompe Disease: muscle biopsy vs blood-based assays, in JAMA Neurol, vol. 70, n. 7, 2013, pp. 923–927, DOI:10.1001/2013.jamaneurol.486, PMID 23649721.
Goldstein J, Young SP, Changela M, et al, Screening for Pompe Disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory, in Muscle Nerve, vol. 40, n. 1, 2009, pp. 32-36, DOI:10.1002/mus.21376, PMID 19533645.
Gaeta M, Barca E, Ruggeri P, et al, Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function, in Molecular Genetics and Metabolism, vol. 110, n. 3, 2013, pp. 290-296, DOI:10.1016/j.ymgme.2013.06.023.
Cupler EJ, Berger KI, Leshner RT, et al, Consensus Treatmnent recommendations for late-onset pompe disease, in Muscle Nerve, vol. 45, n. 3, 2012, pp. 319-333, DOI:10.1002/mus.22329, PMID 22173792.
Toscano A, Schose B, Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review, in J Neurol, vol. 260, n. 4, 2013, pp. 951-9, DOI:10.1007/s00415-012-6636-x, PMID 22926164.
De Vries JM, van der beek N, Hop WCJ, et al, Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study, in Orphanet Rare Dis, vol. 7, n. 73, 2012, DOI:10.1186/1750-1172-7-73.
Gungor D, Kruijshaar ME, Plug I, et al, Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study, in Orphanet Journal of Rare Diseases, vol. 8, n. 49, 2013, DOI:10.1186/1750-1172-8-49.
Lim J, Pompe disease: from pathophysiology to therapy and back again, in Aging Neurosci., vol. 6, n. 177, 2014, pp. 1-14, DOI:10.3389/fnagi.2014.00177, PMID PMC4135233.
Van der Ploeg AT, Kroos MA, Willemsen R, et al, Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice, in J. Clin. Invest, vol. 87, n. 2, 1991, pp. 513-8, DOI:10.1172/JCI115025, PMID 1991835.
Van den Hout H, Reuser AJ, Vulto AG, et al, Recombinant human alpha-glucosidase from rabbit milk in Pompe patients, in Lancet, vol. 356, n. 9927, 2000, DOI:10.1016/S0140-6736(00)02533-2, PMID 10972374.
Amalfitano A, Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial, in Genetics in Medicine, vol. 3, n. 2, 2001, pp. 132-8, DOI:10.1097/00125817-200103000-00007, PMID 11286229.
Amalfitano A, Bengur AR, Morse RP, et al, Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial, in Genetics in Medicine, vol. 3, n. 2, 2001, pp. 132–138, DOI:10.1097/00125817-200103000-00007.

doi.org

Tyler, Frank H., The Differentiation of Myotonia and Pseudomyotonia, in Progressive Muskeldystrophie Myotonie · Myasthenie: Symposium vom 30. November bis 4. Dezember 1965 anläßlich der 125. Wiederkehr des Geburtstages von Wilhelm Erb, 1966, pp. 289–294.

erasmusmc.nl

cluster15.erasmusmc.nl

Erasmus MC: University Medical Center Rotterdam, Mutations In Human Acid Alpha-Glucosidase ^{[collegamento interrotto]}, su cluster15.erasmusmc.nl, Ultimo aggiornamento: Settembre 2014. URL consultato il 6 marzo 2015.

eurekaselect.com

Filosto M, Cotelli MS, Vielmi V, et al, Late-Onset Glycogen Storage Disease Type 2, in Current Molecular Medicine, vol. 14, n. 8, 2014, pp. 971-978, DOI:10.2174/1566524014666141010131649.

europa.eu

ema.europa.eu

European Medicine Agency, Myozyme algucosidase alfa, su ema.europa.eu, Ultimo aggiornamento: Gennaio 2014. URL consultato il 19 marzo 2015.

medscape.com

emedicine.medscape.com

McGovern M, Genetics of Glycogen-Storage Disease Type II (Pompe Disease), su emedicine.medscape.com, Ultimo aggiornamento: Agosto 2014. URL consultato il 19 marzo 2015.

nature.com

Amalfitano A, Bengur AR, Morse RP, et al, Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial, in Genetics in Medicine, vol. 3, n. 2, 2001, pp. 132–138, DOI:10.1097/00125817-200103000-00007.

nih.gov

ncbi.nlm.nih.gov

Wang RY, Bodamer OA, Watson MS, et al, Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals, in Genet Med, vol. 13, n. 5, 2001, pp. 457-484, DOI:10.1097/GIM.0b013e318211a7e1, PMID 21502868.
Gungor D, Reuser AJ, How to describe the clinical spectrum in Pompe disease?, in Am J Med Genet Part A, 161A, n. 2, 2013, pp. 399–400, DOI:10.1002/ajmg.a.35662, PMID 23300052.
Mauro S, Lamperti C, Muscle glycogenoses, in Muscle Nerve, vol. 24, n. 8, 2001, pp. 984-99, PMID 11439374.
Colburn R e Lapidus D, An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion, in Frontiers in Pediatrics, vol. 11, 2024, DOI:10.3389/fped.2023.1221140, PMC 10810242, PMID 38274468.
Kishnani PS, Steiner RD, Bali D, et al., Pompe disease diagnosis and management guideline, in Genet Med, vol. 8, n. 5, 2006, pp. 267-288, DOI:10.1097/01.gim.0000218152.87434.f3, PMID 16702877.
Vissing J, Lukacs Z, Straub V, Diagnosis of Pompe Disease: muscle biopsy vs blood-based assays, in JAMA Neurol, vol. 70, n. 7, 2013, pp. 923–927, DOI:10.1001/2013.jamaneurol.486, PMID 23649721.
Goldstein J, Young SP, Changela M, et al, Screening for Pompe Disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory, in Muscle Nerve, vol. 40, n. 1, 2009, pp. 32-36, DOI:10.1002/mus.21376, PMID 19533645.
Pompe disease diagnosis and management guideline
Cupler EJ, Berger KI, Leshner RT, et al, Consensus Treatmnent recommendations for late-onset pompe disease, in Muscle Nerve, vol. 45, n. 3, 2012, pp. 319-333, DOI:10.1002/mus.22329, PMID 22173792.
Toscano A, Schose B, Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review, in J Neurol, vol. 260, n. 4, 2013, pp. 951-9, DOI:10.1007/s00415-012-6636-x, PMID 22926164.
Lim J, Pompe disease: from pathophysiology to therapy and back again, in Aging Neurosci., vol. 6, n. 177, 2014, pp. 1-14, DOI:10.3389/fnagi.2014.00177, PMID PMC4135233.
Van der Ploeg AT, Kroos MA, Willemsen R, et al, Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice, in J. Clin. Invest, vol. 87, n. 2, 1991, pp. 513-8, DOI:10.1172/JCI115025, PMID 1991835.
Van den Hout H, Reuser AJ, Vulto AG, et al, Recombinant human alpha-glucosidase from rabbit milk in Pompe patients, in Lancet, vol. 356, n. 9927, 2000, DOI:10.1016/S0140-6736(00)02533-2, PMID 10972374.
Amalfitano A, Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial, in Genetics in Medicine, vol. 3, n. 2, 2001, pp. 132-8, DOI:10.1097/00125817-200103000-00007, PMID 11286229.

nobelprize.org

The Nobel Foundation, Christian de Duve - Biographical, su nobelprize.org, 1997. URL consultato il 26 marzo 2015.

oadoi.org

Van der Ploeg AT, Reuser AJ, Pompe's disease, in Lancet, vol. 372, n. 9646, 2008, pp. 1342-53, DOI:10.1016/S0140-6736(08)61555-X.

ojrd.com

Van deer Beck N, de Vries JM, Hagemans M, et al, Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study, in Orphanet J Rare Dis, vol. 7, n. 88, 2012, DOI:10.1186/1750-1172-7-88.
De Vries JM, van der beek N, Hop WCJ, et al, Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study, in Orphanet Rare Dis, vol. 7, n. 73, 2012, DOI:10.1186/1750-1172-7-73.
Gungor D, Kruijshaar ME, Plug I, et al, Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study, in Orphanet Journal of Rare Diseases, vol. 8, n. 49, 2013, DOI:10.1186/1750-1172-8-49.

sciencedirect.com

Gaeta M, Barca E, Ruggeri P, et al, Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function, in Molecular Genetics and Metabolism, vol. 110, n. 3, 2013, pp. 290-296, DOI:10.1016/j.ymgme.2013.06.023.
Van den Hout H, Reuser AJ, Vulto AG, et al, Recombinant human alpha-glucosidase from rabbit milk in Pompe patients, in Lancet, vol. 356, n. 9927, 2000, DOI:10.1016/S0140-6736(00)02533-2, PMID 10972374.

telethon.it

Telethon, Glicogenosi tipo 2, su telethon.it, Ultimo aggiornamento: marzo 2012. URL consultato il 10 marzo 2015.

web.archive.org

Pompe Community, Genetics and Epidemiology, su pompe.com. URL consultato il 6 marzo 2014 (archiviato dall'url originale il 16 febbraio 2015).
Hirschhorn R, Reuser A, Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (Acid Maltase) Deficiency, in The Metabolic and Molecular Bases of Inherited Disease, 2001, pp. 3389-3420, DOI:10.1036/ommbid.164. URL consultato il 26 marzo 2015 (archiviato dall'url originale il 4 marzo 2016).
Il genoma di Cangrande della Scala: il DNA come fonte storica, su museicivici.comune.verona.it. URL consultato il 24 maggio 2021 (archiviato dall'url originale il 21 maggio 2021).

wiley.com

onlinelibrary.wiley.com

AANEM, Diagnostic criteria for late-onset (childhood and adult) pompe disease, in Muscle Nerve, vol. 40, n. 1, 2009, pp. 149-60, DOI:10.1002/mus.21393.
Kyriakides T, Angelini C, Schaefer J, et al, EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia, in Eur J Neurol, vol. 17, 2010, pp. 767-773, DOI:10.1111/j.1468-1331.2010.03012.x.

youtube.com

Genzyme Italia, AIG, Insieme siamo più forti - Malattia di Pompe, su YouTube. URL consultato il 2 aprile 2015.