Pompe disease

doi:10.1016/j.medcli.2025.106922

2025-05-01

PRE

José C. Milisenda *

Ana Matas-García

DOI：10.1016/j.medcli.2025.106922

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摘要

Keyword:

CHILDREN

ADULTS

期刊

Medicina Clinica

IF:

2.1

论文数:

648

被引数:

3.7K

机构

Univ Barcelona

学者数:

1.4K

论文数: 676

被引数: 240

引用论文

Recombinant human acid α-glucosidase - Major clinical benefits in infantile-onset Pompe disease

NEUROLOGY

IF8.5

2007-01-09

652

OAAI

Kishnani, P. S.; Corzo, D.; Nicolino, M.; Byrne, B.; Mandel, H.; Hwu, W. L.; Leslie, N.; Levine, J.; Spencer, C.; McDonald, M.; Li, J.; Dumontier, J.; Halberthal, M.; Chien, Y. H.; Hopkin, R.; Vijayaraghavan, S.; Gruskin, D.; Bartholomew, D.; van der Ploeg, A.; Clancy, J. P.; Parini, R.; Morin, G.; Beck, M.; De la Gastine, G. S.; Jokic, M.; Thurberg, B.; Richards, S.; Bali, D.; Davison, M.; Worden, M. A.; Chen, Y. T.; Wraith, J. E.

Disease severity in children and adults with Pompe disease related to age and disease duration

NEUROLOGY

IF8.5

2005-06-28

153

PREAI

Hagemans, MLC; Winkel, LPF; Hop, WCJ; Reuser, AJJ; Van Doorn, PA; Van der Ploeg, AT

Intravenous immunoglobulin therapy: how does IgG modulate the immune system?

NATURE REVIEWS IMMUNOLOGY

IF60.9

2013-02-15

690

PREAI

Schwab, Inessa; Nimmerjahn, Falk

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

JOURNAL OF PEDIATRICS

IF3.5

2006-05-01

495

PREAI

Kishnani, Priya S.; Hwu, Wuh-Liang; Mandel, Hanna; Nicolino, Marc; Yong, Florence; Corzo, Deyanira

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis α-葡糖苷酶替代疗法治疗婴儿型庞贝病的有效性和安全性：一项系统评价和Meta分析

Frontiers in Pediatrics

IF0

2024-02-15

OAAI

A. D. Dornelles; A. P. P. Junges; B. Krug; C. Gonçalves; H. A. de Oliveira Junior; I. V. D. Schwartz

Lethal immunotoxicity in high-dose systemic AAV therapy 大剂量全身AAV治疗中的致死性免疫毒性

MOLECULAR THERAPY

IF12

2023-11-01

OAAI

Duan, Dongsheng

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Revue Neurologique

IF0

2013-08-01

PREAI

P. Laforêt; K. Laloui; B. Granger; D. Hamroun; N. Taouagh; J.-Y. Hogrel; D. Orlikowski; F. Bouhour; A. Lacour; E. Salort-Campana; I. Penisson-Besnier; S. Sacconi; F. Zagnoli; F. Chapon; B. Eymard; C. Desnuelle; J. Pouget

An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion 庞贝病新生儿筛查数据分析：出生时的患病率新发现、见解与讨论

Frontiers in Pediatrics

IF0

2024-01-08

OAAI

Ryan Colburn; David Lapidus

Lysosomal storage disease 2 - Pompe's disease

LANCET

IF88.5

2008-10-01

589

PREAI

van der Ploeg, Ans T.; Reuser, Arnold J. J.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2022-12-08

OAAI

Cohen, Jennifer L.; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E.; Bali, Deeksha; Young, Sarah P.; Gelb, Michael H.; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C.; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R.; Harmatz, Paul; Kishnani, Priya S.; MacKenzie, Tippi C.

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