Results 181 to 190 of about 21,517,347 (239)

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

[Morquio's disease].

Jornal de pediatria, 2003
openaire   +4 more sources

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Heterogeneity of Morquio disease

Clinical Genetics, 1986
Further clinical heterogeneity of Morquio disease, mucopolysaccharidosis IV (MPS IV), is delineated by the observation of a 30‐year‐old man with unusually mild clinical manifestations. He is 156 cm tall, has comparatively mild skeletal abnormalities and fine corneal deposits. Keratosulfaturia is absent.
J Glössl, J Spranger
exaly   +3 more sources

Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database

Human Mutation, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to alterations in the GALNS gene, which causes major skeletal and ...
Amelia Morrone, Anna Caciotti, Kathryn Davidson   +2 more
exaly   +3 more sources

Posterior atlantoaxial fusion with C1-2 pedicle screw fixation for atlantoaxial dislocation in pediatric patients with mucopolysaccharidosis IVA (Morquio A syndrome): A case series.

World Neurosurgery, 2023
OBJECTIVE To investigate the efficacy and safety of posterior atlantoaxial fusion (AAF) with C1-2 pedicle screw fixation for atlantoaxial dislocation (AAD) in pediatric patients with mucopolysaccharidosis (MPS) IVA.
Hai-tao Liu, Zhitao Liang, Jia Song, Hui-wen Zhang, Fu-Chao Zhou, Qiu-Qi Zhang, Yue-Hui Zhang, Jiang Shao   +7 more
semanticscholar   +1 more source

Morquio's Disease

Archives of Pediatrics & Adolescent Medicine, 1972
Two brothers showed the typical clinical and radiographic changes of Morquio's disease, but with absence of keratosulfaturia. Marked variability of expression characterizes the findings in this condition, which we believe represents one of a heterogeneous group of heritable connective tissue disorders, manifested primarily by universal platyspondyly ...
M E, Norman, W O, Pischnotte
openaire   +2 more sources

Successful Elosulfase Alfa Desensitization Protocol in a Patient With Morquio A Syndrome.

Pediatrics, 2022
Patients with lysosomal storage diseases may require modifications to standard drug desensitization protocols; personalized medicine as well as development of new treatment options are needed.
V. D. Díaz Vidal, Amanda Gillispie, Carol Aranda, Sara Anvari   +3 more
semanticscholar   +1 more source

GARGOYLISM AND MORQUIO'S DISEASE

Archives of Pediatrics & Adolescent Medicine, 1952
AMONG the constitutional disturbances of enchondral bone growth, one must distinguish between disturbances visible at birth (depending on impairment of cartilaginous growth, such as achondroplasia and dyschondroplasia) and the progressive disturbances appearing after birth, in which the enchondral ossification is primarily impaired.
H, ZELLWEGER, L, GIACCAI, S, FIRZLI
openaire   +2 more sources

Morquio's disease

The Indian Journal of Pediatrics, 1957
A case of Morquio's disease in a female child of four and a half years of age is presented with radiographs depicting the characteristic features.
openaire   +2 more sources