Results 191 to 200 of about 8,642 (245)

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia. [PDF]

Orphanet J Rare Dis
AlSayed M, Arafa D, Al-Khawajha H, Afqi M, Al-Sanna'a N, Sunbul R, Faden M.   +6 more
europepmc   +1 more source

Foramen magnum stenosis in patients with mucopolysaccharidoses: diagnosis and surgical treatment. Review of literature

Alexander Stepanenko, K. A. Denisova, V. V. Stepanenko, А. С. Шаповалов, К. В. Сысоев, Alexandr Kim   +5 more
openalex   +2 more sources

A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases. [PDF]

Ther Adv Musculoskelet Dis
Alves I, Westerheim I, Hsiao EC, Upadhyay J, Sangiorgi L, Artyomenko A, Croskery K, Johns J, Warnants E, Barton G.   +9 more
europepmc   +1 more source

Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte, Paulo Gaspar, Hugo Rocha, Marisa Encarnação, Diogo Ribeiro, Matilde Barbosa Almeida, Mariana Gonçalves, Hugo David, Liliana Matos, Olga Amaral, Luísa Diogo, Sara Ferreira, Constança Santos, Esmeralda Martins, Maria João Prata, Luís Pereira de Almeida, Sandra Alves, Maria Francisca Coutinho   +20 more
openalex   +2 more sources

Phenotyping and Provisional Diagnosis of Mucopolysaccharidoses Based on Machine Learning

Srilatha Kadali, Shaik Mohammad Naushad, Vijaya Lakshmi Bodiga   +2 more
openalex   +2 more sources

Hearing loss in patients with Morquio A syndrome: A scoping review. [PDF]

Medicine (Baltimore)
Diaz-Ordoñez L, Duque-Cordoba PA, Silva-Cuero K, Gutierrez-Medina JD, Saldarriaga W, Murgašová L, Magner M, Candelo E, Pachajoa H.   +8 more
europepmc   +1 more source

Towards an agreed approach to investigate children with developmental regression. [PDF]

BMJ Paediatr Open
Furley K, Hunter M, Gawade G, Absoud M, Mehra C, Kochel R, Fahey MC, Williams K.   +7 more
europepmc   +1 more source

Posterior segment findings in Hunter Syndrome: Case report and review. [PDF]

Am J Ophthalmol Case Rep
Majmudar IP, Ismail HO, Dang S, Gill MK.
europepmc   +1 more source

[Mucopolysaccharidoses].

Pediatria polska, 1976
Z, Kopyść, C, Gura, J, Ryzko
openaire   +1 more source