Works matching Pompe disease

Results: 1083

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

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

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

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

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

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

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

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

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

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

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

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

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

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03679-3

By:

Giugliani, Roberto;
Solomon, Faryn;
Kushlaf, Hani;
Wright, Erica;
Haselkorn, Tmirah;
Zanoteli, Edmar;
Schoser, Benedikt

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

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

A New Mutation of Pompe Disease in a 2-Month-Old Infant.

Published in:

Case Reports in Clinical Practice, 2023, v. 8, n. 5, p. 189

By:

Taraz, Maryam;
Gorji, Mojtaba;
Gharib, Behdad;
Ziaee, Vahid

Publication type:

Article

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0620-3

By:

Schaaf, Gerben J.;
van Gestel, Tom J. M.;
in 't Groen, Stijn L. M.;
de Jong, Bart;
Boomaars, Björn;
Tarallo, Antonietta;
Cardone, Monica;
Parenti, Giancarlo;
van der Ploeg, Ans T.;
Pijnappel, W. W. M. Pim

Publication type:

Article

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0609-y

By:

Lagalice, Lydie;
Pichon, Julien;
Gougeon, Eliot;
Soussi, Salwa;
Deniaud, Johan;
Ledevin, Mireille;
Maurier, Virginie;
Leroux, Isabelle;
Durand, Sylvie;
Ciron, Carine;
Franzoso, Francesca;
Dubreil, Laurence;
Larcher, Thibaut;
Rouger, Karl;
Colle, Marie-Anne

Publication type:

Article

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0243-x

By:

Schaaf, Gerben J.;
van Gestel, Tom JM;
Brusse, Esther;
Verdijk, Robert M.;
de Coo, Irenaeus FM;
van Doorn, Pieter A.;
van der Ploeg, Ans T.;
Pijnappel, WWM Pim

Publication type:

Article

Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD).

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00880

By:

Parisi, Daniela;
Musumeci, Olimpia;
Mondello, Stefania;
Brizzi, Teresa;
Oteri, Rosaria;
Migliorato, Alba;
Ciranni, Annamaria;
Mongini, Tiziana E.;
Rodolico, Carmelo;
Vita, Giuseppe;
Toscano, Antonio

Publication type:

Article

Pompe disease: from pathophysiology to therapy and back again.

Published in:

Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00177

By:

Jeong-A Lim;
Lishu Li;
Raben, Nina

Publication type:

Article

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

Screening for late‐onset Pompe disease in Poland.

Published in:

Acta Neurologica Scandinavica, 2019, v. 140, n. 4, p. 239, doi. 10.1111/ane.13133

By:

Jastrzębska, Aleksandra;
Potulska‐Chromik, Anna;
Łusakowska, Anna;
Jastrzębski, Miłosz;
Lipowska, Marta;
Kierdaszuk, Biruta;
Kamińska, Anna;
Kostera‐Pruszczyk, Anna

Publication type:

Article

Screening for late-onset Pompe disease in western Denmark.

Published in:

Acta Neurologica Scandinavica, 2018, v. 137, n. 1, p. 85, doi. 10.1111/ane.12811

By:

Hansen, J. S.;
Pedersen, E. G.;
Gaist, D.;
Bach, F. W.;
Vilholm, O. J.;
Sandal, B.;
Weitemeyer, L.;
Nielsen, K.;
Schlesinger, F. E.;
Preisler, N.;
Vissing, J.;
Andersen, H.

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

An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochondrial DNA depletion syndrome with a novel mutation.

Published in:

Neurology Asia, 2022, v. 27, n. 1, p. 199, doi. 10.54029/2022zpv

By:

İnci, Aslı;
Okur, İlyas;
Demir, Ercan;
Biberoğlu, Gürsel;
Tümer, Leyla;
Serdaroğlu, Ayşe;
Ezgü, Fatih Süheyl

Publication type:

Article

Early higher dosage of alglucosidase alpha in classic Pompe disease.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1343, doi. 10.1515/jpem-2018-0336

By:

Spada, Marco;
Pagliardini, Veronica;
Ricci, Federica;
Biamino, Elisa;
Mongini, Tiziana;
Porta, Francesco

Publication type:

Article

Enzyme Replacement Therapy in an Infant with Pompe's Disease with Severe Cardiomyopathy.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 12, p. 1159, doi. 10.1515/JPEM.2009.22.12.1159

By:

Tanzer, F.;
Buyukkayhan, D.;
Mutlu, E. Cansu;
Korkmaz, F. Kalender

Publication type:

Article

Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 3, p. 319, doi. 10.1177/0883073811420295

By:

Cho, Anna;
Kim, Su Jin;
Lim, Byung Chan;
Hwang, Hee;
Park, June Dong;
Kim, Gi Beom;
Jin, Dong-Kyu;
Lee, Jeehun;
Ki, Chang Seok;
Kim, Ki Joong;
Hwang, Yong Seung;
Chae, Jong-Hee

Publication type:

Article

Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid α-Glucosidase Gene.

Published in:

2010

By:

Alcántara-Ortigoza, Miguel Angel;
González-del Angel, Ariadna;
Barrientos-Rios, Rehotbevely;
Cupples, Courtney;
Garrido-García, Luis Martín;
De León-Bojorge, Beatríz;
Alva-Chaire, Adriana del Carmen

Publication type:

Case Study

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

Analysis of voice quality in patients with late-onset Pompe disease.

Published in:

2016

By:

Szklanny, Krzysztof;
Gubrynowicz, Ryszard;
Iwanicka-Pronicka, Katarzyna;
Tylki-Szymańska, Anna

Publication type:

journal article

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Published in:

2016

By:

Van Capelle, C. I.;
Van der Meijden, J. C.;
Van den Hout, J. M. P.;
Jaeken, J.;
Baethmann, M.;
Voit, T.;
Kroos, M. A.;
Derks, T. G. J.;
Rubio-Gozalbo, M. E.;
Willemsen, M. A.;
Lachmann, R. H.;
Mengel, E.;
Michelakakis, H.;
de Jongste, J. C.;
Reuser, A. J. J.;
Van der Ploeg, A. T.

Publication type:

journal article

A conceptual disease model for adult Pompe disease.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0334-6

By:

Kanters, Tim A.;
Redekop, W. Ken;
Rutten-Van Mölken, Maureen P. M. H.;
Kruijshaar, Michelle E.;
Güngör, Deniz;
van der Ploeg, Ans T.;
Hakkaart, Leona

Publication type:

Article

A conceptual disease model for adult Pompe disease.

Published in:

2015

By:

Kanters, Tim A.;
Redekop, W. Ken;
Rutten-Van Mölken, Maureen P. M. H.;
Kruijshaar, Michelle E.;
Güngör, Deniz;
van der Ploeg, Ans T.;
Hakkaart, Leona

Publication type:

journal article

Defect in degradation of glycogenin‐exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.

Published in:

Journal of Pathology, 2024, v. 263, n. 1, p. 8, doi. 10.1002/path.6255

By:

Zhang, Na;
Liu, Fuchen;
Zhao, Yuying;
Sun, Xiaohan;
Wen, Bing;
Lu, Jian‐qiang;
Yan, Chuanzhu;
Li, Duoling

Publication type:

Article

The cost-effectiveness of enzyme replacement therapy (ERT) for the infantile form of Pompe disease: comparing a high-income country's approach (England) to that of a middle-income one (Colombia).

Published in:

Revista de Salud Pública, 2012, v. 14, n. 1, p. 143, doi. 10.1590/S0124-00642012000100012

By:

Castro- Jaramillo, Héctor E.

Publication type:

Article

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 661, doi. 10.3233/JND-220819

By:

Al Shehri, Ali;
Al-Asmi, Abdullah;
Al Salti, Abdullah Mohammed;
Almadani, Abubaker;
Hassan, Ali;
Bamaga, Ahmed K.;
Cupler, Edward J.;
Al-Hashel, Jasem;
Alabdali, Majed M.;
Alanazy, Mohammed H.;
Noori, Suzan

Publication type:

Article

Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 619, doi. 10.3233/JND-220792

By:

Takahashi, Junichiro;
Mori-Yoshimura, Madoka;
Ariga, Hajime;
Sato, Noriko;
Nishino, Ichizo;
Takahashi, Yuji

Publication type:

Article