Works matching Pompe disease

Results: 1104

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

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

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

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

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

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

Results of orthodontic procedure in a patient with classic infantile Pompe disease.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02023-6

By:

Grimaldi, Carla Maria;
D'Alessandro, Daniela;
Faraguna, Martha Caterina;
Boggio, Andrea;
Caldara, Giulia;
Barzaghi, Silvia;
Pretese, Roberta;
Crescitelli, Viola;
Gasperini, Serena

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

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

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

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

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

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

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

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

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

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

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 8, p. 738, doi. 10.1111/j.1460-9592.2007.02215.x

By:

WANG, LUKE Y.-J.;
ROSS, ALLISON K.;
LI, JENNIFER S.;
DEARMEY, STEPHANIE M.;
MACKEY, JOANNE F.;
WORDEN, MARYALICE;
CORZO, DEYANIRA;
MORGAN, CLAIRE;
KISHNANI, PRIYA S.

Publication type:

Article

Regional anesthetic techniques are an alternative to general anesthesia for infants with Pompe's disease.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 7, p. 697, doi. 10.1111/j.1460-9592.2007.02196.x

By:

WALKER, ROBERT W.M.;
BRIGGS, GERAINT;
BRUCE, JAMES;
FLETCHER, JOAN;
WRAITH, E.D.

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

El rol del fisioterapeuta en el manejo de la Enfermedad de Pompe.

Published in:

Revista Facultad de Ciencias de la Salud UDES, 2015, v. 2, n. 1, p. 42, doi. 10.20320/rfcsudes.v2i1.236

By:

Ruiz Agudelo, Rocío del Pilar;
Alba, Laura Lorena;
Martínez-Rueda, Rosmary

Publication type:

Article

Anesthetic Management of a Patient with Pompe Disease & Kartagener Syndrome.

Published in:

Gazi Medical Journal, 2021, v. 32, n. 3, p. 448, doi. 10.12996/gmj.2021.101

By:

Bağcaz, Selin;
Yıldırım, Ercan;
Gülburun, Merve Altın;
Işık, Berrin

Publication type:

Article

Anesthetic Management of a Patient with Pompe Disease: Our Experiment.

Published in:

Gazi Medical Journal, 2017, v. 28, n. 3, p. 208, doi. 10.12996/gmj.2017.61

By:

Arpacı, Ayşe Hande;
Venedik, Ozan Kaan

Publication type:

Article

Retrospective, Single Center Study of Clinical, Paraclinical and Natural Course of Infantile-Onset Pompe Disease.

Published in:

Zahedan Journal of Research in Medical Sciences, 2015, v. 17, n. 1, p. 43

By:

Noori, Noormohammad;
Miri-Aliabad, Ghasem;
Khajeh, Ali

Publication type:

Article

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Published in:

Life (2075-1729), 2021, v. 11, n. 6, p. 507, doi. 10.3390/life11060507

By:

Gal, Aniko;
Grosz, Zoltán;
Borsos, Beata;
Szatmari, Ildikó;
Sebők, Agnes;
Jávor, Laszló;
Harmath, Veronika;
Szakszon, Katalin;
Dezsi, Livia;
Balku, Eniko;
Jobbagy, Zita;
Herczegfalvi, Agnes;
Almássy, Zsuzsanna;
Kerényi, Levente;
Molnar, Maria Judit

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

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.839263

By:

Zhang, Huiting;
Chen, Jun;
Zhu, Yuchang;
Ma, Xiaotang;
Zhong, Wangtao

Publication type:

Article

Glycogen storage disease type II (Pompe disease) – influence of enzyme replacement therapy in adults.

Published in:

European Journal of Neurology, 2009, v. 16, n. 2, p. 274, doi. 10.1111/j.1468-1331.2008.02377.x

By:

Merk, T.;
Wibmer, T.;
Schumann, C.;
Krüger, S.

Publication type:

Article

همراه با Pompe نوع دیر رس بیماري افزایش ترانس آمینازهاي کبدي: گزارش موردي

Published in:

Journal of Mazandaran University of Medical Sciences (JMUMS), 2020, v. 29, n. 180, p. 140

By:

مریم باقري;
نسرین بازگیر;
سجاد سالاري

Publication type:

Article

Can Genetic counseling and Preimplantation Genetic Diagnosis prevent fatal infantileonset Pompe disease?

Published in:

Lijecnicki Vjesnik, 2019, v. 141, p. 48

By:

Dumančić, Stipe;
Smajo, Ana;
Ćuk, Mario

Publication type:

Article

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.

Published in:

2018

By:

Hensel, Ole;
Schneider, Ilka;
Wieprecht, Mathias;
Kraya, Torsten;
Zierz, Stephan

Publication type:

journal article

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.

Published in:

2017

By:

Kanters, Tim A.;
van der Ploeg, Ans T.;
Kruijshaar, Michelle E.;
Rizopoulos, Dimitris;
Ken Redekop, W.;
Rutten-van Mölken, Maureen P. M. H.;
Hakkaart-van Roijen, Leona;
Redekop, W Ken;
Rutten-van Mӧlken, Maureen P M H

Publication type:

journal article

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Published in:

2017

By:

Byrne, Barry J.;
Geberhiwot, Tarekegn;
Barshop, Bruce A.;
Barohn, Richard;
Hughes, Derralynn;
Bratkovic, Drago;
Desnuelle, Claude;
Laforet, Pascal;
Mengel, Eugen;
Roberts, Mark;
Haroldsen, Peter;
Reilley, Kristin;
Jayaram, Kala;
Ke Yang;
Walsh, Liron;
Yang, Ke;
POM-001/002 Investigators

Publication type:

journal article

Postoperative acute respiratory failure caused by adult‐onset Pompe disease.

Published in:

2018

By:

Tan, Dingyu;
Xu, Jun;
Yang, Yi;
Gu, Ming;
Yu, Xuezhong

Publication type:

Case Study

New horizons in understanding and treating Pompe disease - diagnosis and therapy. A literature review.

Published in:

Journal of Pre-Clinical & Clinical Research, 2024, v. 18, n. 4, p. 303, doi. 10.26444/jpccr/193653

By:

Zegardło, Weronika;
Jankowiak, Karolina;
Kwiatkowski, Bartłomiej;
Kabała, Zuzanna;
Nowakowska, Maria;
Osipowska, Julia;
Chrościńska-Krawczyk, Magdalena;
Witas, Aleksandra

Publication type:

Article

Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

Published in:

Journal of Patient-Reported Outcomes, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41687-024-00805-w

By:

Kishnani, Priya S.;
Byrne, Barry J.;
Claeys, Kristl G.;
Díaz-Manera, Jordi;
Dimachkie, Mazen M.;
Kushlaf, Hani;
Mozaffar, Tahseen;
Roberts, Mark;
Schoser, Benedikt;
Hummel, Noemi;
Kopiec, Agnieszka;
Holdbrook, Fred;
Shohet, Simon;
Toscano, Antonio;
Sebok, Agnes;
Pestronk, Alan;
Dominovic-Kovacevic, Aleksandra;
Khan, Aneal;
Koritnik, Blaž;
Tard, Celine

Publication type:

Article

Screening for late-onset Pompe disease in undiagnosed myopathies.

Published in:

Neurology & Clinical Neuroscience, 2017, v. 5, n. 2, p. 60, doi. 10.1111/ncn3.12108

By:

Matsui, Misa;
Inoue, Kimiko;
Sakoda, Saburo;
Matsumura, Tsuyoshi;
Hamazaki, Takashi;
Kosuga, Motomichi;
Okuyama, Torayuki;
Shimada, Yohta;
Ohashi, Toya;
Nishino, Ichizo

Publication type:

Article

Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report.

Published in:

2019

By:

Asadpour, Nabiollah;
Bagheri-Kakolaki, Najmeh

Publication type:

Case Study

Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance.

Published in:

Neurology & Therapy, 2019, v. 8, n. 2, p. 397, doi. 10.1007/s40120-019-00157-4

By:

Nagura, Hitoshi;
Hokugo, Jiro;
Ueda, Kazuo

Publication type:

Article

Pharmacokinetics of Alglucosidase Alfa Manufactured at the 4000‐L Scale in Participants with Pompe Disease: A Phase 3/4 Open‐Label Study.

Published in:

Clinical Pharmacology in Drug Development, 2023, v. 12, n. 12, p. 1185, doi. 10.1002/cpdd.1314

By:

Nicolas, Xavier;
Hurbin, Fabrice;
Periquet, Magali;
Richards, Susan;
Sensinger, Charlotte;
Welch, Karen;
An Haack, Kristina

Publication type:

Article

Combined general and epidural anesthesia for major abdominal surgery in a patient with Pompe disease.

Published in:

Journal of Anesthesia, 2010, v. 24, n. 5, p. 768, doi. 10.1007/s00540-010-0984-4

By:

Won Sung Kim;
Ah Reum Cho;
Jung Min Hong;
Eun Soo Kim;
Sung Chun Park;
Ji Young Yoon;
Tae Kyun Kim

Publication type:

Article

Precocious puberty in patients with Pompe disease.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1150498

By:

Meng-Ju Melody Tsai;
Mei-Huei Chen;
Yin-Hsiu Chien;
Yi-Ching Tung

Publication type:

Article

Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management.

Published in:

Therapeutics & Clinical Risk Management, 2022, v. 18, p. 1099, doi. 10.2147/TCRM.S334232

By:

Bolano-Diaz, Carla;
Diaz-Manera, Jordi

Publication type:

Article

Late‐onset Pompe's disease in a hemodialysis patient: A first case report.

Published in:

2018

By:

Eleftheriadis, Theodoros;
Makri, Panagiota;
Karakosta, Paschalia;
Pissas, Georgios;
Liakopoulos, Vassilios;
Michelakakis, Helen;
Hadjigeorgiou, Georgios M.;
Stefanidis, Ioannis

Publication type:

Case Study

Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study.

Published in:

Neurourology & Urodynamics, 2022, v. 41, n. 5, p. 1177, doi. 10.1002/nau.24950

By:

Chen, Yu‐Kuang;
Teng, Chao‐Ting;
Yang, Chia‐Feng;
Niu, Dau‐Ming;
Huang, William J.;
Fan, Yu‐Hua

Publication type:

Article