المؤلفون: Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De laTorre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz delCarmen Marquez‐Quiróz, Benjamín Torres‐Octavo, Rubicel Diaz‐Martinez

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)

مصطلحات موضوعية: acid alpha‐glucosidase, GAA gene, metabolic myopathy, phenotype–genotype correlation, Pompe disease, pseudodeficiency allele, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/10c85aa27eff45718f043839c276dd00

المؤلفون: Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel

المصدر: JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)

مصطلحات موضوعية: ARSA, arylsulfatase A, MLD, MRI, newborn screening, ARSA pseudodeficiency, 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/4a3ea2bf39934c278c9a7f0dbf03854f

المؤلفون: Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Pompe disease, Newborn screening, Acid α-glucosidase, GAA, Pseudodeficiency allele, Disease frequency, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/5bcc5203a9df4ca3a5d7188233c212fb

المؤلفون: Mona Essawi, Nagham ElBagoury, Engy Ashaat, Wessam Sharaf-Eldin, Ekram Fateen

المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Pompe disease, Acid α-glucosidase, Molecular analysis, Pseudodeficiency allele, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09

المؤلفون: Xiufang He, Xuandi Li, Yuese Lin, Hongjun Ba, Huimin Peng, Lili Zhang, Ling Zhu, Youzhen Qin, Shujuan Li

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: acid α-glucosidase, pseudodeficiency alleles, Duchenne muscular dystrophy, creatine kinase, child, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.855510/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/d593c728a3e345c38b62935490cc8885

المؤلفون: Takaaki Sawada (9301612), Jun Kido (9301609), Keishin Sugawara (9301618), Ken Momosaki (9301615), Shinichiro Yoshida (6912182), Kanako Kojima-Ishii (11853917), Takahito Inoue (528272), Shirou Matsumoto (7144064), Fumio Endo (553611), Shouichi Ohga (200079), Shinichi Hirose (281002), Kimitoshi Nakamura (380079)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Neuroscience, Biotechnology, Ecology, Immunology, Marine Biology, Cancer, Science Policy, Biological Sciences not elsewhere classified, Pompe disease, Newborn screening, Acid α-glucosidase, GAA, Pseudodeficiency allele, Disease frequency

Relation: https://figshare.com/articles/presentation/Additional_file_1_of_Current_status_of_newborn_screening_for_Pompe_disease_in_Japan/17284292

الاتاحة: https://doi.org/10.6084/m9.figshare.17284292.v1

المؤلفون: Jesús A. Juárez‐Osuna, Sandra C. Mendoza‐Ruvalcaba, Angela Porras‐Dorantes, Thiago D. Da Silva‐José, José E. García‐Ortiz

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: Arylsulfatase A, enzyme activity, haplotypes, metachromatic leukodystrophy, pseudodeficiency, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/26924220633c4aaca157c3074bc5dea6

المؤلفون: Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone

المصدر: Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 35-45 (2018)

مصطلحات موضوعية: Laboratory tests, Mucopolysaccharides, Glycosaminoglycans, Molecular analysis, Pseudodeficiency, Genetic counselling, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-018-0553-2; https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/5039a696bad7411ab0704d34085eee72

المؤلفون: Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell

المصدر: Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)

مصطلحات موضوعية: Tyrosinemia, Hypersuccinylacetonemia, Fah, Fumarylacetoacetate hydrolase, Nitisinone, Pseudodeficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917301635; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/95486fd6a0e04bf1be78ba0866a34b6f

المؤلفون: Diana Rojas Malaga, Sandra Leistner-Segal, Ana Carolina Brusius-Facchin

المصدر: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-3 (2019)

مصطلحات موضوعية: NAGLU gene, Alpha-N-acetyl-D-glucosaminidase, Pseudodeficiency allele, Sanfilippo B syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-019-0657-3; https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/beab54743efc429599c38484e348a833

المؤلفون: Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani

المصدر: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)

مصطلحات موضوعية: Lysosomal storage diseases, Newborn screening, Confirmatory diagnosis, Carrier, Pseudodeficiency, Brazil, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300617; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/a2fe1b980788428984281a4eabc80911

المؤلفون: Lorne A. Clarke, Patricia Dickson, N. Matthew Ellinwood, Terri L. Klein

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 4; Pages: 91

مصطلحات موضوعية: lysosomal storage disease, mucopolysaccharidoses, glycosaminoglycans, pseudodeficiency

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6040091

الاتاحة: https://doi.org/10.3390/ijns6040091

المؤلفون: Seok-Ho Yu, Laura Pollard, Tim Wood, Heather Flanagan-Steet, Richard Steet

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 4; Pages: 88

مصطلحات موضوعية: IDUA, α-iduronidase, newborn screening, pseudodeficiency, mucopolysaccharidosis

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6040088

الاتاحة: https://doi.org/10.3390/ijns6040088

المؤلفون: Barbara K. Burton, Rachel Hickey, Lauren Hitchins

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 3; Pages: 73

مصطلحات موضوعية: mucopolysaccharidosis type II, pseudodeficiency, newborn screening

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6030073

الاتاحة: https://doi.org/10.3390/ijns6030073

المؤلفون: Takaaki Sawada, Jun Kido, Kimitoshi Nakamura

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 2; Pages: 31

مصطلحات موضوعية: Pompe disease, newborn screening, pseudodeficiency, genotype-phenotype correlation, treatment and follow-up

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6020031

الاتاحة: https://doi.org/10.3390/ijns6020031

المؤلفون: Tracy L. Klug, Lori B. Swartz, Jon Washburn, Candice Brannen, Jami L. Kiesling

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 1; Pages: 11

مصطلحات موضوعية: Pompe disease, newborn screening, follow-up, pseudodeficiency

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6010011

الاتاحة: https://doi.org/10.3390/ijns6010011

المؤلفون: Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 1; Pages: 2

مصطلحات موضوعية: newborn screening, post-analytical tools, Pompe disease, mucopolysaccharidosis type I, pseudodeficiency

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6010002

الاتاحة: https://doi.org/10.3390/ijns6010002

المؤلفون: N. V. Olkhovych, N. G. Gorovenko

المصدر: The Ukrainian Biochemical Journal, Vol 88, Iss 5, Pp 96-106 (2016)

مصطلحات موضوعية: allele frequency, lysosomal hydrolases, pseudodeficiency of the enzyme, Biochemistry, QD415-436, Medicine, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://ukrbiochemjournal.org/wp-content/uploads/2016/11/Olkhovych_5_16.pdf; https://doaj.org/toc/2409-4943; https://doaj.org/toc/2413-5003

URL الوصول: https://doaj.org/article/ed52bbc9857244c9ac22dc63e4f96793

المؤلفون: Artigalás, Osvaldo, Paskulin, Giorgio, Riegel, Mariluce, Burin, Maira, Saraiva-Pereira, Maria Luiza, Maluf, Sharbel, Kiss, Andrea, Schwartz, Ida Vanessa D.

المصدر: Genetics and Molecular Biology. January 2012 35(2)

مصطلحات موضوعية: 22q13 deletion, apparently balanced translocation, ARSA gene, arylsulfatase A pseudodeficiency, metachromatic leukodystrophy

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007

المساهمون: College of Medicine, Dept. of Neurology, Jung Hwan Lee, Jin-Hong Shin, Hyung Jun Park, Sook Za Kim, Young Mi Jeon, Hye Kyoung Kim, Dae-Seong Kim, Young-Chul Choi, Lee, Jung Hwan, Choi, Young Chul

مصطلحات موضوعية: Adult, Female, Glycogen Storage Disease Type II/blood, Glycogen Storage Disease Type II/complications, Glycogen Storage Disease Type II/diagnosis, Glycogen Storage Disease Type II/enzymology, Humans, Male, Muscular Diseases/blood, Muscular Diseases/complications, Muscular Diseases/diagnosis, Muscular Diseases/enzymology, Prospective Studies, Republic of Korea/epidemiology, alpha-Glucosidases/blood, Late onset Pompe disease, Pseudodeficiency, Screening study, Unspecified myopathies

Relation: NEUROMUSCULAR DISORDERS; J02344; OAK-2017-02762; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160209; https://www.sciencedirect.com/science/article/pii/S0960896617300275; T201701443; NEUROMUSCULAR DISORDERS, Vol.27(6) : 550-556, 2017

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/160209
https://doi.org/10.1016/j.nmd.2017.03.005
https://www.sciencedirect.com/science/article/pii/S0960896617300275