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Mucopolysaccharidosis type I: founder effect of the p. P533R mutation in North Africa
Background Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a
deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially …
deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially …
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
L Chkioua, O Grissa, N Leban, M Gribaa… - BMC Medical …, 2020 - Springer
Abstract Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-
linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2 …
linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2 …
[PDF][PDF] Genetics of Mucopolysaccharidosis Type IV (Morquio Disorder) in Patients from Azerbaijan
AS Aydin, AKA Agha, MS Aftandil, REM Rasul - Òîì 7 - dspace.uzhnu.edu.ua
Materials and methods. Material for studies was collected in the specialized children
medical centers in Baku city, Azerbaijan, as well as in the field works in the regions of the …
medical centers in Baku city, Azerbaijan, as well as in the field works in the regions of the …
Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the p. P533R Mutation in the Maghreb Population
L Chkioua, H El Fissi, Y Amri, C Saheli, F Bouzid… - 2023 - researchsquare.com
Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the
p.P533R Mutation in the Maghreb P Page 1 Page 1/20 Molecular Characterization of the …
p.P533R Mutation in the Maghreb P Page 1 Page 1/20 Molecular Characterization of the …
БЮЛЛЕТЕНЬ НАУКИ И ПРАКТИКИ
СА АЛИЗАДЕ, КА АЛИЕВА… - … НАУКИ И ПРАКТИКИ …, 2022 - elibrary.ru
Во время экспедиционных работ по выявлению больных с мукополисахаридозом в
одном из регионов Азербайджанской Республики при клиническом обследовании …
одном из регионов Азербайджанской Республики при клиническом обследовании …
[PDF][PDF] The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical pro les in Tunisian patients
O Grissa, N Leban, M Gribaa, H Boudabous, HB Turkia… - scholar.archive.org
Abstract Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-
linked recessive lysosomal storage disorder resulting from de cient activity of iduronate 2 …
linked recessive lysosomal storage disorder resulting from de cient activity of iduronate 2 …
[PDF][PDF] Mutational Analysis of Mucopolysaccharidosis in Iranian Patients
SH Saberi, S Farshidi, B Kamalidehghan… - Zahedan Journal of …, 2021 - academia.edu
Mucopolysaccharidosis (MPS) is a rare and heterogeneous metabolic disorder with wide
phenotypic distributions throughout the world. This study aimed to determine the genetic …
phenotypic distributions throughout the world. This study aimed to determine the genetic …
The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
O Grissa, N Leban, M Gribaa, H Boudabous, HB Turkia… - 2020 - researchsquare.com
Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked
recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase …
recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase …