Results 21 to 30 of about 133,872 (296)

Precocious puberty in patients with Pompe disease

Frontiers in Endocrinology, 2023
IntroductionThe life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is
Meng-Ju Melody Tsai, Meng-Ju Melody Tsai, Mei-Huei Chen, Mei-Huei Chen, Yin-Hsiu Chien, Yin-Hsiu Chien, Yi-Ching Tung   +6 more
doaj   +1 more source

Effect of asfotase alfa in the treatment of hypophosphatasia- A systematic review

Journal of Pharmacy and Bioallied Sciences, 2023
Hypophosphatasia (HPP) is a life-threatening disease that occurs due to the mutation of the TNSALP (Tissue nonspecific isoenzyme of alkaline phosphatase) encoding gene. There is no approved treatment for Hypophosphatasia.
N Jaswanthi, R Sindhu, P Nimmy, D Prabu, M RajMohan, V V Bharathwaj, Dinesh Dhamodhar, S Sathiyapriya   +7 more
doaj   +1 more source

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2020
Background Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides.
Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu   +2 more
doaj   +1 more source

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. [PDF]

PLoS ONE, 2015
We developed an immunochromatography-based assay for detecting antibodies against recombinant α-galactosidase A proteins in serum. The evaluation of 29 serum samples from Fabry patients, who had received enzyme replacement therapy with agalsidase alpha ...
Sachie Nakano, Takahiro Tsukimura, Tadayasu Togawa, Toya Ohashi, Masahisa Kobayashi, Katsuyoshi Takayama, Yukuharu Kobayashi, Hiroshi Abiko, Masatsugu Satou, Tohru Nakahata, David G Warnock, Hitoshi Sakuraba, Futoshi Shibasaki   +12 more
doaj   +1 more source

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W   +69 more
core   +1 more source

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вопросы современной педиатрии, 2020
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina   +6 more
doaj   +1 more source

Enzyme Replacement Therapy for Murine Hypophosphatasia [PDF]

Journal of Bone and Mineral Research, 2008
Abstract Introduction: Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP).
José Luis, Millán, Sonoko, Narisawa, Isabelle, Lemire, Thomas P, Loisel, Guy, Boileau, Pierre, Leonard, Svetlana, Gramatikova, Robert, Terkeltaub, Nancy Pleshko, Camacho, Marc D, McKee, Philippe, Crine, Michael P, Whyte   +11 more
openaire   +2 more sources

Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis

Molecular Genetics and Metabolism Reports, 2021
GM1-gangliosidosis is a lysosomal disease resulting from a deficiency in the hydrolase β-galactosidase (β-gal) and subsequent accumulation of gangliosides, primarily in neuronal tissue, leading to progressive neurological deterioration and eventually ...
Michael J. Przybilla, Christine Stewart, Timothy W. Carlson, Li Ou, Brenda L. Koniar, Rohini Sidhu, Pamela J. Kell, Xuntian Jiang, Jeanine R. Jarnes, M. Gerard O'Sullivan, Chester B. Whitley   +10 more
doaj   +1 more source

Enzyme Replacement Therapy and Fabry Nephropathy [PDF]

Clinical Journal of the American Society of Nephrology, 2010
Involvement of the kidneys in Fabry disease ("nephropathy") occurs in male and female individuals. The majority of patients with progressive nephropathy will have significant proteinuria and develop progressive loss of kidney function, leading to ESRD.
David G, Warnock, Erica, Daina, Giuseppe, Remuzzi, Michael, West   +3 more
openaire   +2 more sources

Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2019
Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation ...
Amal El Beshlawy, Vagishwari Murugesan, Pramod Kumar Mistry, Khaled Eid   +3 more
doaj   +1 more source