Works matching Pompe disease

Results: 1072

庞贝病神经系统损伤的研究进展.

Published in:

Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 4, p. 420, doi. 10.7499/j.issn.1008-8830.2211052

By:

张文超;
毛莹莹;
综述;
陈倩;
审校

Publication type:

Article

庞贝病诊断与治疗的研究进展.

Published in:

Chinese Journal of Contemporary Pediatrics, 2018, v. 20, n. 7, p. 588, doi. 10.7499/j.issn.1008-8830.2018.07.015

By:

张昕彤综述;
任卫东审校

Publication type:

Article

Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 16, doi. 10.3390/ijns11010016

By:

Ron, Hayley A.;
Kane, Owen;
Guo, Rose;
Menello, Caitlin;
Engelhardt, Nicole;
Pressley, Shaney;
DiBoscio, Brenda;
Steffensen, Madeline;
Cuddapah, Sanmati;
Ng, Kim;
Ficicioglu, Can;
Ahrens-Nicklas, Rebecca C.

Publication type:

Article

Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).

Published in:

Sleep & Breathing, 2021, v. 25, n. 2, p. 695, doi. 10.1007/s11325-020-02170-6

By:

Yamauchi, Motoo;
Nakayama, Hideaki;
Shiota, Satomi;
Ohshima, Yasuyoshi;
Terada, Jiro;
Nishijima, Tsuguo;
Kosuga, Motomichi;
Kitamura, Takuro;
Tachibana, Naoko;
Oguri, Takuya;
Shirahama, Ryutaro;
Aoki, Yasuhiro;
Ishigaki, Keiko;
Sugie, Kazuma;
Yagi, Tomoko;
Muraki, Hisae;
Fujita, Yukio;
Takatani, Tsunenori;
Muro, Shigeo

Publication type:

Article

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes—the Pompe disease burden scale.

Published in:

Journal of Neurology, 2019, v. 266, n. 8, p. 2010, doi. 10.1007/s00415-019-09373-2

By:

Hundsberger, Thomas;
Schoser, Benedikt;
Leupold, Daniela;
Rösler, Kai Michael;
Putora, Paul Martin

Publication type:

Article

Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS<sup>®</sup>) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.

Published in:

Journal of Patient-Reported Outcomes, 2024, v. 8, p. 1, doi. 10.1186/s41687-024-00686-z

By:

Kishnani, Priya S.;
Shohet, Simon;
Raza, Syed;
Hummel, Noemi;
Castelli, Jeffrey P.;
Sitaraman Das, Sheela;
Jiang, Heng;
Kopiec, Agnieszka;
Keyzor, Ian;
Hahn, Andreas

Publication type:

Article

AFECTAREA CARDIOVASCULARĂ ÎN BOALA POMPE.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2017, v. 66, n. 1, p. 52, doi. 10.37897/rjp.2017.1.11

By:

Luca, Alina-Costina;
Braha, Elena

Publication type:

Article

Primer caso en México de un paciente con enfermedad de Pompe de inicio tardío: remisión de cardiomiopatía con terapia de reemplazo enzimático.

Published in:

Boletín Médico del Hospital Infantil de México, 2014, v. 71, n. 1, p. 41

By:

Cerón-Rodríguez, Magdalena;
Zamora, Antonio;
Erdmenger, Julio;
Ureña, Roberto;
Sánchez, Alejandra Consuelo

Publication type:

Article

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Published in:

Children, 2021, v. 8, n. 7, p. 1, doi. 10.3390/children8070601

By:

Kyung-Sun Park

Publication type:

Article

A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030043

By:

Crossen, Kaylee;
Berry, Lisa;
Myers, Melanie F.;
Leslie, Nancy;
Goueli, Cecilia

Publication type:

Article

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 713, doi. 10.3233/JND-210784

By:

Duong, Tina;
Kishnani, Priya S.;
An Haack, Kristina;
Foster, Meredith C.;
Gibson, James B.;
Wilson, Catherine;
Hahn, Si Houn;
Hillman, Richard;
Kronn, David;
Leslie, Nancy D.;
Peña, Loren D.M.;
Sparks, Susan E.;
Stockton, David W.;
Tanpaiboon, Pranoot;
Day, John W.

Publication type:

Article

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 261, doi. 10.3233/JND-210728

By:

Chawla, Tanushree;
Preethish-Kumar, Veeramani;
Polavarapu, Kiran;
Vengalil, Seena;
Bardhan, Mainak;
Puri, RatnaDua;
Verma, Jyotsna;
Christopher, Rita;
Supriya, Manjunath;
Nashi, Saraswati;
Prasad, Chandrajit;
Nadeesh, Bevinahalli;
Nalini, Atchayaram

Publication type:

Article

Muž, který se nemohl ponořit - kazuistika pacienta s typickým průběhem pozdní formy Pompeho nemoci.

Published in:

Neurologie Pro Praxi, 2024, v. 25, n. 1, p. 74, doi. 10.36290/neu.2024.003

By:

Mensová, Lívie;
Baumgartner, Daniel

Publication type:

Article

Adultní forma Pompeho nemoci.

Published in:

Neurologie Pro Praxi, 2021, v. 22, n. 4, p. 325

By:

Mišurová, Radka;
Malinová, Věra

Publication type:

Article

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-72259-5

By:

Rustamov, Jaloliddin;
Rustamov, Zahiriddin;
Mohamad, Mohd Saberi;
Zaki, Nazar;
Al Tenaiji, Amal;
Al Harbi, Mariam;
Al Jasmi, Fatma

Publication type:

Article

Dieta i aktywność fizyczna jako elementy terapii w chorobie Pompego.

Published in:

Forum Zaburzen Metabolicznych, 2023, v. 14, n. 3, p. 126

By:

Banach, Weronika;
Matuszak, Oskar;
Korda, Oliwia;
Skrypnik, Damian

Publication type:

Article

A BETEGEK ÁLTAL RIPORTÁLT KIMENETI MUTATÓK JELENTÔSÉGE POMPE-KÓRBAN.

Published in:

Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 3/4, p. 105, doi. 10.18071/isz.74.0105

By:

Judit, MOLNÁR Mária;
Viktor, MOLNÁR;
Izabella, LÁSZLÓ;
Márta, SZEGEDI;
Vera, VÁRHEGYI;
Zoltán, GROSZ

Publication type:

Article

TAPASZTALATAINK POMPE-BETEGSÉGBEN TERHESSÉG ALATT ALKALMAZOTT ENZIMPÓTLÓ KEZELÉSSEL ÉS AZ IRODALOM ÁTTEKINTÉSE.

Published in:

Clinical Neuroscience / Ideggyógyászati Szemle, 2020, v. 73, n. 9/10, p. 339, doi. 10.18071/isz.73.0339

By:

Zoltán, GROSZ;
Katalin, VÁRDI Visy;
Judit, MOLNÁR Mária

Publication type:

Article

A KÉSŐI KEZDETŰ POMPE-KÓRBAN SZENVEDŐK ENZIMPÓTLÓ KEZELÉSÉNEK HOSSZÚ TÁVÚ KÖVETÉSE.

Published in:

Clinical Neuroscience / Ideggyógyászati Szemle, 2020, v. 73, n. 5/6, p. 151, doi. 10.18071/isz.73.0151

By:

MOLNÁR, Mária Judit;
BORSOS, Beáta;
VÁRDI, Visy Katalin;
GROSZ, Zoltán;
SEBÔK, Ágnes;
DÉZSI, Livia;
ALMÁSSY, Zsuzsanna;
KERÉNYI, Levente;
JOBBÁGY, Zita;
JÁVOR, László;
BIDLÓ, Judit

Publication type:

Article

ULOGA FIZIKALNE MEDICINE I REHABILITACIJE U LIJEČENJU BOLESNIKA S POMPEOVOM BOLESTI.

Published in:

Fizikalna i Rehabilitacijska Medicina, 2022, v. 36, n. 3/4, p. 154, doi. 10.21751/FRM-36-3-4-2

By:

Vukić, Tamara;
Pećin, Ivan

Publication type:

Article

Characteristics of Pompe disease in China: a report from the Pompe registry.

Published in:

2019

By:

Zhao, Yuying;
Wang, Zhaoxia;
Lu, Jiahong;
Gu, Xuefan;
Huang, Yonglan;
Qiu, Zhengqing;
Wei, Yanping;
Yan, Chuanzhu

Publication type:

journal article

The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445–1510): does the child have Pompe disease?

Published in:

Child's Nervous System, 2022, v. 38, n. 7, p. 1267, doi. 10.1007/s00381-022-05537-0

By:

de Campos, Deivis

Publication type:

Article

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.

Published in:

2010

By:

Ishigaki, Keiko;
Mitsuhashi, Satomi;
Kuwatsuru, Ryohei;
Murakami, Terumi;
Shishikura, Keiko;
Suzuki, Haruko;
Hirayama, Yoshito;
Nonaka, Ikuya;
Osawa, Makiko

Publication type:

Report

Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report.

Published in:

European Review for Medical & Pharmacological Sciences, 2017, v. 21, n. 16, p. 3665

By:

WALCZAK-GALEZEWSKA, M.;
SKRYPNIK, D.;
SZULINSKA, M.;
MUSIALIK, K.;
SKRYPNIK, K.;
BOGDANSKI, P.

Publication type:

Article

Failure of Autophagy in Pompe Disease.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 573, doi. 10.3390/biom14050573

By:

Do, Hung;
Meena, Naresh K.;
Raben, Nina

Publication type:

Article

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1414, doi. 10.3390/biom13091414

By:

Ditters, Imke A. M.;
van Kooten, Harmke A.;
van der Beek, Nadine A. M. E.;
van der Ploeg, Ans T.;
Huidekoper, Hidde H.;
van den Hout, Johanna M. P.

Publication type:

Article

A Comprehensive Update on Late-Onset Pompe Disease.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1279, doi. 10.3390/biom13091279

By:

Labella, Beatrice;
Cotti Piccinelli, Stefano;
Risi, Barbara;
Caria, Filomena;
Damioli, Simona;
Bertella, Enrica;
Poli, Loris;
Padovani, Alessandro;
Filosto, Massimiliano

Publication type:

Article

Ptosis, Extraocular Motility Disorder, and Myopia as Features of Pompe Disease.

Published in:

Orbit, 2011, v. 30, n. 2, p. 111, doi. 10.3109/01676830.2010.546932

By:

Slingerland, Niki W.R.;
Polling, Jan Roelof;
van Gelder, Catharina M.;
van der Ploeg, Ans T.;
Bleyen, Isabel

Publication type:

Article

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Published in:

Genes, 2020, v. 11, n. 2, p. 135, doi. 10.3390/genes11020135

By:

Aung-Htut, May T.;
Ham, Kristin A.;
Tchan, Michel C.;
Fletcher, Sue;
Wilton, Steve D.

Publication type:

Article

Enfermedad de Pompe: detección de portadores en un estado del sureste de México: reporte de un caso.

Published in:

2020

By:

Hernández-Morales, Margarita Josefina;
Domínguez-Morales, Ever;
García-Pérez, Leonardo Ulises;
Martínez-Hernández, Clara Magdalena

Publication type:

Case Study

Pompe Disease Screening in a Sample of Iranian Patients.

Published in:

Acta Medica Iranica, 2021, v. 59, n. 1, p. 50

By:

Basiri, Keivan;
Ansari, Behnaz

Publication type:

Article

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w

By:

Parenti, Giancarlo;
Fecarotta, Simona;
Alagia, Marianna;
Attaianese, Federica;
Verde, Alessandra;
Tarallo, Antonietta;
Gragnaniello, Vincenza;
Ziagaki, Athanasia;
Guimaraes, Maria Jose';
Aguiar, Patricio;
Hahn, Andreas;
Azevedo, Olga;
Donati, Maria Alice;
Kiec-Wilk, Beata;
Scarpa, Maurizio;
van der Beek, Nadine A. M. E.;
Del Toro Riera, Mireja;
Germain, Dominique P.;
Huidekoper, Hidde;
van den Hout, Johanna M. P.

Publication type:

Article

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

Published in:

2025

By:

Moschetti, Marta;
Venezia, Marika;
Giacomarra, Miriam;
Marsana, Emanuela Maria;
Zizzo, Carmela;
Duro, Giulia;
D'Errico, Annalisa;
Colomba, Paolo;
Duro, Giovanni

Publication type:

Literature Review

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3625, doi. 10.3390/ijms22073625

By:

Napolitano, Filomena;
Bruno, Giorgia;
Terracciano, Chiara;
Franzese, Giuseppina;
Palomba, Nicole Piera;
Scotto di Carlo, Federica;
Signoriello, Elisabetta;
De Blasiis, Paolo;
Navarro, Stefano;
Gialluisi, Alessandro;
Melone, Mariarosa Anna Beatrice;
Sampaolo, Simone;
Esposito, Teresa;
Ługowska, Agnieszka;
Bednarska-Makaruk, Małgorzata;
Pierzynowska, Karolina

Publication type:

Article

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2850, doi. 10.3390/ijms22062850

By:

Moriggi, Manuela;
Capitanio, Daniele;
Torretta, Enrica;
Barbacini, Pietro;
Bragato, Cinzia;
Sartori, Patrizia;
Moggio, Maurizio;
Maggi, Lorenzo;
Mora, Marina;
Gelfi, Cecilia;
Couce, María Luz

Publication type:

Article

The Respiratory Phenotype of Pompe Disease Mouse Models.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2256, doi. 10.3390/ijms21062256

By:

Fusco, Anna F.;
McCall, Angela L.;
Dhindsa, Justin S.;
Zheng, Lucy;
Bailey, Aidan;
Kahn, Amanda F.;
ElMallah, Mai K.

Publication type:

Article

Lung MRI and impairment of diaphragmatic function in Pompe disease.

Published in:

BMC Pulmonary Medicine, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12890-015-0058-3

By:

Wens, Stephan C. A.;
Ciet, Pierluigi;
Perez-Rovira, Adria;
Logie, Karla;
Salamon, Elizabeth;
Wielopolski, Piotr;
de Bruijne, Marleen;
Kruijshaar, Michelle E.;
Tiddens, Harm A. W. M.;
van Doorn, Pieter A.;
van der Ploeg, Ans T.

Publication type:

Article

Right ventricular function in late-onset Pompe disease.

Published in:

Journal of Clinical Monitoring & Computing, 2014, v. 28, n. 4, p. 419, doi. 10.1007/s10877-014-9551-0

By:

Fayssoil, Abdallah;
Nardi, Olivier;
Annane, Djillali;
Orlikowski, David

Publication type:

Article

Diagnose und Therapie des Late-onset-Morbus-Pompe.

Published in:

Der Nervenarzt, 2013, v. 84, n. 12, p. 1467, doi. 10.1007/s00115-013-3947-9

By:

Schüller, A.;
Kornblum, C.;
Deschauer, M.;
Vorgerd, M.;
Schrank, B.;
Mengel, E.;
Lukacs, Z.;
Gläser, D.;
Young, P.;
Plöckinger, U.;
Schoser, B.

Publication type:

Article

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.

Published in:

Journal of Molecular Medicine, 2017, v. 95, n. 5, p. 513, doi. 10.1007/s00109-017-1505-9

By:

Yi, Haiqing;
Sun, Tao;
Armstrong, Dustin;
Borneman, Scott;
Yang, Chunyu;
Austin, Stephanie;
Kishnani, Priya;
Sun, Baodong

Publication type:

Article

Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences.

Published in:

International Journal of Audiology, 2013, v. 52, n. 12, p. 816, doi. 10.3109/14992027.2013.840932

By:

Hanisch, F.;
Rahne, T.;
Plontke, S.K.

Publication type:

Article

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1336599

By:

Hui-An Chen;
Rai-Hseng Hsu;
Ching-Ya Fang;
Desai, Ankit K.;
Ni-Chung Lee;
Wuh-Liang Hwu;
Fuu-Jen Tsai;
Kishnani, Priya S.;
Yin-Hsiu Chien

Publication type:

Article

Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease.

Published in:

Lung, 2019, v. 197, n. 1, p. 1, doi. 10.1007/s00408-018-0171-1

By:

Pitts, Teresa;
Bordelon, Rachel;
Huff, Alyssa;
Byrne, Barry J.;
Smith, Barbara K.

Publication type:

Article

Pompe disease: A review.

Published in:

Journal of Alternative Medicine Research, 2021, v. 13, n. 1, p. 83

By:

Covi, Stuart;
Anne, Premchand

Publication type:

Article

Ağır Hipertrofik Kardiyomiyopati ile Kendini Gösteren İnfantil Pompe Hastalığı: Olgu Sunumu.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2015, v. 53, n. 3, p. 266, doi. 10.4274/haseki.2405

By:

Bayraktar, Süleyman;
Bayraktar, Bilge Tanyeri;
Elevli, Murat

Publication type:

Article

Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement.

Published in:

2022

By:

Al-Hashel, Jasem;
Ismail, Ismail

Publication type:

Case Study

Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report.

Published in:

2024

By:

Mir, Moein;
Rouhani, Kianmehr;
Rouhani, Kiana;
Hassani, Mohammadjavad;
Damirchi, Mohammadrafi;
Yazdansetad, Sajjad;
Aghaei, Mehrdad

Publication type:

Case Study

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.

Published in:

2024

By:

Castellar-Leones, Sandra Milena;
Ortiz-Corredor, Fernando;
Manrique-Hernández, Daniel;
Sánchez-Peñarete, Diana;
Ruiz-Ospina, Edicson;
Soto-Peña, Diana;
Correa-Arrieta, Cristian

Publication type:

Case Study

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Published in:

2018

By:

Adadi, Najlae;
Sahli, Maryem;
Egéa, Grégory;
Ratbi, Ilham;
Taoudi, Mohamed;
Zniber, Layla;
Jdioui, Wafaa;
El Mouatassim, Said;
Sefiani, Abdelaziz

Publication type:

journal article

Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale.

Published in:

European Journal of Neurology, 2024, v. 31, n. 12, p. 1, doi. 10.1111/ene.16397

By:

van Kooten, Harmke A.;
Horton, Mike C.;
Wenninger, Stephan;
Babačić, Haris;
Schoser, Benedikt;
Lefeuvre, Claire;
Taouagh, Najib;
Laforêt, Pascal;
Segovia, Sonia;
Díaz‐Manera, Jordi;
Claeys, Kristl G.;
Mongini, Tiziana;
Musumeci, Olimpia;
Toscano, Antonio;
Hundsberger, Thomas;
Brusse, Esther;
van Doorn, Pieter A.;
van der Ploeg, Ans T.;
van der Beek, Nadine A. M. E.;
van Kooten, H. A

Publication type:

Article