Results 51 to 60 of about 8,804 (200)

Muscle biopsy in Pompe disease [PDF]

Arquivos de Neuro-Psiquiatria, 2013
Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.Methods:A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases).Results:Vacuoles with or without glycogen storage were ...
Werneck LC, Lorenzoni PJ, Kay CS, Scola RH   +3 more
openaire   +6 more sources

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

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

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Multiple, Successful Pregnancies in Pompe Disease.

, 2015
Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency.
Bosanska, Lenka, Gabriele Gossing, Nikolaus Tiling, Lenka Bosanska, Tiling, Nikolaus, Temmesfeld-Wollbrueck, Bettina, Irlbacher, Kerstin, Plöckinger, Ursula, Kerstin Irlbacher, Bettina Temmesfeld-Wollbrueck, Viktor Mezger, Mezger, Viktor, Gossing, Gabriele, Ursula Plöckinger   +13 more
core   +1 more source

A conceptual disease model for adult Pompe disease [PDF]

, 2015
__Background:__ Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power.
Kanters, T.A. (Tim), Redekop, W.K. (Ken), Kruijshaar, M.E. (Michelle), Güngör, D. (Deniz), Ploeg, A.T. (Ans) van der, Hakkaart-van Roijen, L. (Leona), Rutten-van Mölken, M.P.M.H. (Maureen)   +6 more
core   +2 more sources

Adult Form of Pompe Disease

Advances in Respiratory Medicine, 2008
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased.
Ziółkowska-Graca, Bożena, Kania, Aleksander, Zwolińska, Grażyna, Niżankowska-Mogilnicka, Ewa   +3 more
openaire   +3 more sources

Hearing in adults with Pompe disease [PDF]

Journal of Inherited Metabolic Disease, 2011
AbstractHearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α‐glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and
van der Beek, Nadine A. M. E., Verschuure, Hans, Reuser, Arnold J. J., van der Ploeg, Ans T., van Doorn, Pieter A., Poublon, René M. L.   +5 more
openaire   +3 more sources

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 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