Results 61 to 70 of about 4,895 (172)

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

, 2008
pompe disease; glycogen storage disease type II; acid maltase deficiency; diagnosis; lysosomal acid alpha-glucosidase; enzyme assay; acarbose ACID ALPHA-GLUCOSIDASE; DRIED BLOOD SPOTS; LYSOSOMAL STORAGE DISORDERS; NATURAL COURSE; INFANTILE ...
Sinigerska, I, Szlago, M., Bodamer, O.A., Zakharova, E, Winchester, B, Bali, D., Piraud, M, Mengel, E., Reuser, A., Lugowska, A., Van Diggelen, O.P., Verheijen, F., Sinigerska, I., Mandel, H, Keutzer, J, Ledvinova, J, Lugowska, A, Fumic, K, Maire, I., Reuser, Arnold, Bodamer, OA, Deschauer, M, Mengel, E, Verheijen, Frans, Cupler, E, Cooper, A., Lukacs, Z., Szlago, M, Lacerda, L., Kishnani, P, Keutzer, J., Lukacs, Z, Winchester, B., Maire, I, Bali, D, Caillaud, C., Zakharova, E., Christensen, E., Wuyts, Brigitte, Ledvinova, J., Deschauer, M., Rupar, T, Jackson, M, Wuyts, B, Piraud, M., Christensen, E, Muller-Felber, W., Muller-Felber, W, Caillaud, C, Jackson, M., Lacerda, L, Rupar, T., Cupler, E., Kishnani, P., Cooper, A, Fumic, K., Diggelen, Otto, Mandel, H.   +57 more
core   +1 more source

Acid maltase deficiency--Pompe's disease.

JPMA. The Journal of the Pakistan Medical Association, 2012
Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD).
Jamil, Sajjad, Ahmed, Shahid, Tariq, M.
openaire   +1 more source

Molecular cloning of acid α-glucosidase cDNA of Japanese quail (Coturnix coturnix japonica) and the lack of its mRNA in acid maltase deficient quails

, 1997
Acid α-glucosidase (GAA) hydrolyzes α-1, 4 and α-1, 6 glucosidic linkages of oligosaccharides and degrades glycogen in the lysosomes. The full-length GAA I cDNA, pQAM8, was isolated from a cDNA library derived from Japanese quail liver.
Kikuchi, Tateki, Pennybacker, Mark, Nakabayashi, Osamu, Mizutani, Makoto, Wu, Jer-Yuarn, Kunita, Ryota, Chen, Yuan-Tsong, Hagiwara, Yasuko   +7 more
core   +1 more source

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers [PDF]

, 2011
We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness.
Juna M. de Vries, Reuser, Arnold, de Vries, J, van der Ploeg, Ans T., van Doorn, Pieter; id_orcid, de Vries, Juna M., van den Berg, Linda E.M., van der Ploeg, Ans, Robert M. Verdijk, Berg, Linda, Verdijk, Robert M., van Doorn, Pieter A., Verdijk, Rob, Ans T. van der Ploeg, van Doorn, Pieter A.; id_orcid, Arnold J.J. Reuser, Pieter A. van Doorn, Linda E.M. van den Berg, Reuser, Arnold J.J.   +18 more
core   +1 more source

Neural regulation of acid maltase in an unusual adult onset deficiency

, 1994
In a 48-year-old female, the first symptoms apparently manifested themselves 18 years before, with occasional tripping and weakness in both legs. During the next 18 years, weakness progressed and the patient developed a waddling gait; she became unable ...
M. Sterlicchio, M. Moggio, N. Bresolin, M. Mauri, V. Sansone, G. Rotondo, G. Meola, S. Radice   +7 more
core  

Thought ripples on muscle waves: recognition of rippling muscle disease.

, 2008
Contains fulltext : 70599.pdf (Publisher’s version ) (Open Access)We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years after his mother had been falsely diagnosed with acid maltase ...
Willemsen, M.A.A.P., Voermans, N.C., Drost, G., Ginjaar, H.B., Alfen, N. van   +4 more
core   +1 more source

Metabolic myopathies

, 1986
Six glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency ...
Servidei S., Miranda A. F., DiMauro S., Sakoda S., Shanske S., Schon E. A., Zeviani M.   +6 more
core   +1 more source

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease). [PDF]

Paediatr Child Health, 2019
Zapata-Aldana E, McMillan HJ, Rupar T, Brunel-Guitton C, Chakraborty P, Mitchell JJ, Roth J, Tarnopolsky MA, Turner L, Campbell C.   +9 more
europepmc   +1 more source

Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. [PDF]

Neurology, 2014
Beltran Papsdorf TB, Howard JF, Chahin N.   +2 more
europepmc   +1 more source

Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency. [PDF]

Muscle Nerve, 2011
Zaidman CM, Malkus EC, Siener C, Florence J, Pestronk A, Al-Lozi M.   +5 more
europepmc   +1 more source