المؤلفون: Haller, Christine, Song, Wenjie, Cimms, Tricia, Chen, Chao-Yin, Whitley, Chester B, Wang, Raymond Y, Bauer, Mislen, Harmatz, Paul

المصدر: JIMD reports. 49(1)

مصطلحات موضوعية: MPS VII, Sly syndrome, enzyme replacement therapy, heat map, mucopolysaccharidosis, vestronidase alfa, Rare Diseases, Clinical Research, Clinical Trials and Supportive Activities, Behavioral and Social Science, Pediatric, Mucopolysaccharidoses (MPS)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1jz6508x

المؤلفون: P. K. Tandon, Emil D. Kakkis

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: Multi-domain responder index, MDRI, Mucopolysaccharidosis, MPS, Laronidase, Vestronidase alfa, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9c3dbfe6adaf4a38b7eff77791ab3cb8

المؤلفون: Tandon, P. K.^{Aff1, Aff2}, Kakkis, Emil D.

المصدر: Orphanet Journal of Rare Diseases. 16(1)

المؤلفون: Christine Haller, Wenjie Song, Tricia Cimms, Chao‐Yin Chen, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Paul Harmatz

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 53-62 (2019)

مصطلحات موضوعية: enzyme replacement therapy, heat map, MPS VII, mucopolysaccharidosis, Sly syndrome, vestronidase alfa, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/45171029c10d4a88ae6609f3c07fd284

المؤلفون: Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100774- (2021)

مصطلحات موضوعية: Vestronidase alfa, Recombinant human β-glucuronidase, Enzyme replacement therapy, Mucopolysaccharidosis VII, MPS VII, Phase 1/2, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000689; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/297f569dcaed4705b7582aae504318a9

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Paul Harmatz, Tricia Cimms, Wenjie Song, Raymond Y. Wang, Christine Haller, Mislen Bauer, Chester B. Whitley, Chao Yin Chen

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 53-62 (2019)
JIMD reports, vol 49, iss 1
JIMD Reports

مصطلحات موضوعية: Research Report, medicine.medical_specialty, Randomization, Mucopolysaccharidoses (MPS), lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Clinical Trials and Supportive Activities, vestronidase alfa, Mucopolysaccharidosis VII, Disease, MPS VII, heat map, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Quality of life, Clinical Research, Behavioral and Social Science, Internal Medicine, Clinical endpoint, Medicine, Pediatric, 0303 health sciences, lcsh:RC648-665, business.industry, 030305 genetics & heredity, Research Reports, mucopolysaccharidosis, Enzyme replacement therapy, medicine.disease, 3. Good health, lcsh:Genetics, Sly syndrome, Physical therapy, Population study, business, 030217 neurology & neurosurgery, enzyme replacement therapy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f686c939e50c42430cfe653bdda633
https://doaj.org/article/45171029c10d4a88ae6609f3c07fd284

المؤلفون: Heather A. Lau, David Viskochil, Pranoot Tanpaiboon, Antonio Gonzalez-Meneses Lopez, Esmeralda Martins, Julie Taylor, Betsy Malkus, Lin Zhang, Agnieszka Jurecka, Deborah Marsden

المصدر: Molecular genetics and metabolism. 136(1)

مصطلحات موضوعية: Vestronidase alfa, Hydrolases, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis VII, Growth, Biochemistry, Pediatric patients, Endocrinology, Urinary glycosaminoglycan, Splenomegaly, Genetics, Humans, Enzyme Replacement Therapy, Child, Molecular Biology, Hepatosplenomegaly, Glucuronidase, Glycosaminoglycans, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d1d6811ab948a0d11efa3c93d3d8d58
https://pubmed.ncbi.nlm.nih.gov/35331634

المؤلفون: Mahmut Çoker, Agnieszka Jurecka, Simon Jones, Jill Mayhew, Jennifer Sniadecki, Pauline Hensman, Antonio Gonzalez-Meneses Lopez

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100774-(2021)

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), QH301-705.5, Short Communication, Recombinant human beta-glucuronidase, Urology, Vestronidase alfa, Mucopolysaccharidosis VII, MPS VII, Phase 1/2, Endocrinology, Every other week, R5-920, Genetics, medicine, Biology (General), Molecular Biology, business.industry, Enzyme replacement therapy, Urinary glycosaminoglycan excretion, Recombinant human β-glucuronidase, Open label, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be45013b38230c30bb24d1fc1804c294
http://europepmc.org/articles/PMC8178115

المؤلفون: Emil D. Kakkis, P. K. Tandon

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: medicine.medical_specialty, MPS, Review, Disease, law.invention, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Randomized controlled trial, law, Clinical endpoint, medicine, Humans, Laronidase, Pharmacology (medical), 030212 general & internal medicine, Multi-domain responder index, Intensive care medicine, Trial registration, Genetics (clinical), Randomized Controlled Trials as Topic, MDRI, Vestronidase alfa, business.industry, Clinical study design, General Medicine, Clinical disease, Mucopolysaccharidosis, Multi domain, Medicine, business, 030217 neurology & neurosurgery, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe0006749b8a18f0a2eb998fe63e243a
https://doi.org/10.1186/s13023-021-01805-5