Results 151 to 160 of about 21,517,347 (239)

Surgical Reconstruction for Severe Tracheal Obstruction in Morquio A Syndrome.

Annals of Thoracic Surgery, 2016
C. Pizarro, R. Davies, M. Theroux, E. Spurrier, L. Averill, S. Tomatsu   +5 more
semanticscholar   +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

[Morquio's syndrome].

Revista chilena de pediatria, 1977
M, Mena, R, Obando
openaire   +1 more source

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time. [PDF]

Genet Med Open
Burton BK, Stepien KM, Campeau PM, Sutton J, Hunt A, Reisewitz P, Hinds D.   +6 more
europepmc   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source

C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias. [PDF]

J Bone Miner Res
Carroll RS, Olney RC, Duker AL, Coghlan RF, Schelhaas AJ, Mackenzie WG, Ditro CP, Brown CJ, O'Connell DA, Horton WA, Johnstone B, Espiner EA, Prickett TCR, Bober MB.   +13 more
europepmc   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report. [PDF]

Radiol Case Rep
Gebresilassie MY, Mehammed AH, Damtie MY, Midekso HD, Bezabih NA, Abera MT, Worku AB.   +6 more
europepmc   +1 more source

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches. [PDF]

Mamm Genome
Marcó S, Muñoz S, Bosch F, Jimenez V.
europepmc   +1 more source

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