Results 111 to 120 of about 5,240 (183)

Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis. [PDF]

Mol Genet Metab Rep
Dealy J, Inbar-Feigenberg M.
europepmc   +1 more source

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 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

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia. [PDF]

Front Endocrinol (Lausanne)
Skaf K, Fardipour M, Schmidt P, Bolmer E, Keller A, Lampe C, Jurgens J, Lindschau M, Palm K, Ruckdeschel S, Javanmardi B, Mohnike K.   +11 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

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation. [PDF]

BMC Pediatr
Zou H, Yang L, Qin Y, Zhang R.
europepmc   +1 more source

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES. [PDF]

Acta Ortop Bras
Matos MA, Lopes PS.
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

Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case. [PDF]

Radiol Case Rep
Boujida N, Jabour S, Elaitari K, Allali N, Chat L, Haddad SE.   +5 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