Results 51 to 60 of about 4,879,561 (170)

Pompe disease: Clinical perspectives [PDF]

, 2017
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II.
Marsden, Deborah, Cabello Andrade, Juan Francisco   +1 more
core   +1 more source

Pompe disease [PDF]

, 2021
La enfermedad de Pompe forma parte de las enfermedades relacionadas con alteraciones en el depósito o el metabolismo del glucógeno. También conocida como deficiencia de maltasa ácida, enfermedad de depósito de glucógeno tipo IIA y deficiencia de alfa ...
Garcia-Pena, A.A., Palomino-Doza, Julián, Suárez-Obando, Fernando   +2 more
core   +1 more source

Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease

Stem Cell Research, 2022
Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs ...
Wenjun Huang, Yafei Zhou, Jie Wang, Congshan Jiang, Yanmin Zhang, Rui Zhou   +5 more
doaj   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Orphanet Journal of Rare Diseases, 2021
Background In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm ...
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn   +11 more
doaj   +1 more source

Genetic Heterozygosity and Pseudodeficiency in the Pompe Disease Newborn Screening Pilot Program

, 2011
Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid - glucosidase (GAA) activity. This is the first LSD in which newborn screening has been shown to improve clinical outcomes.
簡穎秀;李妮鍾;胡務亮, Labrousse, Paul; Chien, Yin-Hsiu; Pomponio, Robert J.; Keutzer, Joan; Lee, Ni-Chung; Akmaev, Viatcheslav R.; Scholl, Thomas; Hwu, Wuh-Liang   +1 more
core   +1 more source

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

, 2017
Newborn screening (NBS) for Pompe disease is done through analysis of acid alpha-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a diagnosis ...
Hwu, W, Kishnani, P, Kronn, David, Pompe Disease Newborn Screening Working Group, Burton, B   +4 more
core   +1 more source

Pompe disease [PDF]

, 2017
Pompeova bolest rijedak je nasljedni autosomno recesivni metabolički poremećaj uzrokovan manjkom ili potpunim nedostatkom enzima α-1,4-glukozidaze zbog mutacije gena koji kodiraju ovaj enzim (GAA).
Dujmović, Dora
core   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

, 2017
After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease,
Hwu, W, Kishnani, P, Day-Salvatore, D, Kronn, David, Nakamura, K, Okuyama, T, Jones, S, Swoboda, K, , Pompe Disease Newborn Screening Working Group   +8 more
core   +1 more source