Works matching Pompe disease

Results: 1084

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

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

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

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

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

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

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

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

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

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

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

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

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

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

A challenging etiology of myopathy: The late-onset Pompe disease.

Published in:

European Journal of Rheumatology, 2023, v. 10, n. 1, p. 26, doi. 10.5152/eurjrheum.2022.21156

By:

İnel, Tuba Yüce;
Avşar, Aydan Köken;
Kısa, Pelin Teke;
Özer, Erdener;
Sarı, İsmail

Publication type:

Article

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.

Published in:

2007

By:

Hoeksma, Marieke;
Boon, Maartje;
Niezen-Koning, Klary E.;
Van Overbeek-Van Gils, Lidy;
Van Spronsen, Francjan J.

Publication type:

journal article

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1108222

By:

Lin, Simon;
Nateqi, Jama;
Weingartner-Ortner, Rafael;
Gruarin, Stefanie;
Marling, Hannes;
Pilgram, Vinzenz;
Lagler, Florian B.;
Aigner, Elmar;
Martin, Alistair G.

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

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Published in:

Cardiology in the Young, 2022, v. 32, n. 3, p. 364, doi. 10.1017/S1047951121002079

By:

Byrne, Barry J.;
Colan, Steven D.;
Kishnani, Priya S.;
Foster, Meredith C.;
Sparks, Susan E.;
Gibson, James B.;
An Haack, Kristina;
Stockton, David W.;
Peña, Loren D. M.;
Hahn, Si Houn;
Johnson, Judith;
Tanpaiboon, Pranoot X.;
Leslie, Nancy D.;
Kronn, David;
Hillman, Richard E.;
Wang, Raymond Y.

Publication type:

Article

Infantile-onset pompe disease: a tale of two cases.

Published in:

2020

By:

Tolani, Drishti;
Bansal, Neha;
Sehgal, Swati

Publication type:

journal article

Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease.

Published in:

2019

By:

Yeşilbaş, Osman;
Epçaçan, Serdar

Publication type:

journal 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

An Interesting Case of Infant Sudden Death: Severe Hypertrophic Cardiomyopathy in Pompe's Disease.

Published in:

Pacing & Clinical Electrophysiology, 1999, v. 22, n. 5, p. 821, doi. 10.1111/j.1540-8159.1999.tb00551.x

By:

Metzl, Jordan D.;
Elias, Ellen R.;
Berul, Charles I.

Publication type:

Article

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2016, v. 65, n. 4, p. 352

By:

Luca, Alina-Costina;
Braha, Elena

Publication type:

Article

Pompe disease: criteria for diagnosis and treatment.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 3, p. 232

By:

Diaconu, Georgeta;
Grigore, Ioana;
Burlea, M.

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

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

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

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

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

Effect of enzyme replacement therapy (ERT) added to Home Mechanical Ventilation (HMV) in Adult Pompe disease.

Published in:

2015

By:

Sayeed, Nadia;
Sharma, Pooja;
Abdelhalim, Manahil;
Mukherjee, Rahul

Publication type:

Case Study

Enfermedad de Pompe: reporte de caso.

Published in:

NOVA: Publicación Científica en Ciencias Biomédicas, 2016, v. 13, n. 25, p. 113

By:

Arias, Sara;
Gómez, Mariana;
Gustavo Celis, Luis;
Fernández, Isabel

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

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.

Published in:

Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1309146

By:

Carter, Chris;
Boggs, Tracy;
Case, Laura E.;
Kishnani, Priya

Publication type:

Article

Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Published in:

Neuropathology & Applied Neurobiology, 2018, v. 44, n. 5, p. 449, doi. 10.1111/nan.12414

By:

Ripolone, M.;
Violano, R.;
Ronchi, D.;
Mondello, S.;
Nascimbeni, A.;
Colombo, I.;
Fagiolari, G.;
Bordoni, A.;
Fortunato, F.;
Lucchini, V.;
Saredi, S.;
Filosto, M.;
Musumeci, O.;
Tonin, P.;
Mongini, T.;
Previtali, S.;
Morandi, L.;
Angelini, C.;
Mora, M.;
Sandri, M.

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

CONSENSO ARGENTINO SOBRE ENFERMEDAD DE POMPE DE INICIO TARDÍO.

Published in:

Revista Medicina, 2018, v. 78, n. Suppl1, p. 1

By:

DUBROVSKY, ALBERTO;
FULGENZI, ERNESTO;
DE VITO, EDUARDO L.;
BARROSO, FABIO;
BERARDO, ANDRÉS;
BETTINI, MARIELA;
BINAGHI, DANIELA;
CALABRESE, ESTEBAN;
CARLÉS, DANIEL;
CHAVES, MARCELO;
CHLOCA, FERNANDO;
CONTI, EUGENIA;
CORDERI, JOSE;
DI GENNARO, FEDERICO;
FERRADÁS, NÉLIDA;
JÁUREGUI, AGUSTÍN;
LUBIENIECKI, FABIANA;
MAZIA†, CLAUDIO;
MEDINA, MARTA;
PIRRA, LAURA

Publication type:

Article

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 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

Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity.

Published in:

Journal of Patient-Reported Outcomes, 2020, v. 4, n. 1, p. N.PAG, doi. 10.1186/s41687-020-00245-2

By:

Harfouche, Melodi;
Kishnani, Priya S.;
Krusinska, Eva;
Gault, Jamie;
Sitaraman, Sheela;
Sowinski, Amanda;
Katz, Irina;
Austin, Stephanie;
Goldstein, Margi;
Mulberg, Andrew E.

Publication type:

Article

Infantile Pompe disease: A case report and review of the Chinese literature.

Published in:

Experimental & Therapeutic Medicine, 2016, v. 11, n. 1, p. 235, doi. 10.3892/etm.2015.2862

By:

YUN LIU;
YANG YANG;
BEIBEI WANG;
LIZHI WU;
HONGLU LIANG;
QING KAN;
ZHAOLAN CAO;
YOUYAN ZHAO;
XIAOYU ZHOU

Publication type:

Article

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.

Published in:

Clinical & Translational Medicine, 2025, v. 15, n. 4, p. 1, doi. 10.1002/ctm2.70314

By:

Weiss, Lan;
Carrer, Michele;
Shmara, Alyaa;
Martin, Angela;
Yin, Hong;
Pal, Pallabi;
Cheng, Cheng;
Ta, Lac;
Boock, Victoria;
Fazeli, Yasamin;
Chang, Mindy;
Paguio, Marvin;
Lee, Jonathan;
Yu, Howard;
Weiss, John;
Grossman, Tamar R;
Raben, Nina;
Jafar‐Nejad, Paymaan;
Kimonis, Virginia

Publication type:

Article