Results 151 to 160 of about 4,684 (195)

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis. [PDF]

JMIR Res Protoc
Diaz-Ordoñez L, Duque-Cordoba PA, Nieva-Posso DA, Saldarriaga W, Gutierrez-Medina JD, Pachajoa H.   +5 more
europepmc   +1 more source

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +1 more source

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders. [PDF]

Int J Mol Sci
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9. [PDF]

Cells
Leal AF, Prieto LE, Pachajoa H.
europepmc   +1 more source

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life. [PDF]

Ital J Pediatr
Zhang W, Huang Y, Su X, Zhao X, Sheng H, Liang C, Jiang M, Zeng C, Cai Y, Lin Y, Shao Y, Liu S, Jiang H, Liu L.   +13 more
europepmc   +1 more source

Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. [PDF]

Hum Gene Ther
Herreño-Pachón AM, Sawamoto K, Stapleton M, Khan S, Piechnik M, Álvarez JV, Tomatsu S.   +6 more
europepmc   +1 more source

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA. [PDF]

Front Pediatr
Arnaboldi SMC, Faraguna MC, Colombini A, Sala A, Leoni V, Spinelli M, Gotti G, Bettini LR, Crescitelli V, Commone A, Gasperini S, Rizzari C.   +11 more
europepmc   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]

Front Genet
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

UTILREGNELIGHET Fra «Afsindige og Galne» til «sterkt avvikende sinnstilstand

, 2020
openaire   +1 more source

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene
openaire