Results 161 to 170 of about 21,517,347 (239)

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase. [PDF]

Int J Mol Sci
Saikia S, Ago Y, Nidhi F, Khan S, Ma Z, Tomatsu S.   +5 more
europepmc   +1 more source

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report. [PDF]

Cureus
Chavan S, Chalipat S, Verma S, Kumar G, Mane S.   +4 more
europepmc   +1 more source

Anesthetic and Airway Management in a Pediatric Patient with Morquio Syndrome: A Case Report. [PDF]

Acta Med Philipp
Garcia YKG, Reyes CRB.
europepmc   +1 more source

Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. [PDF]

BMC Pediatr
El Feil NSA, Abuzaid Y, Mobarak A.
europepmc   +1 more source

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series. [PDF]

JAAD Case Rep
Fialová J, Kojanová M, Šáhó R, Magner M.   +3 more
europepmc   +1 more source

Morquio's disease.

Paediatrica Indonesiana, 1980
H S, Pramuljo, L A, Tamaela, W T, Karyomanggolo   +2 more
openaire   +1 more source

Exploring Multivalent Architectures for Binding and Stabilization of <i>N</i>-Acetylgalactosamine 6-Sulfatase. [PDF]

Molecules
Davighi MG, Clemente F, D'Adamio G, Martínez-Bailén M, Morano A, Goti A, Morrone A, Matassini C, Cardona F.   +8 more
europepmc   +1 more source

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source