Results 1 to 10 of about 1,770 (187)

An adult with Morquio syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2009
We report a case of a 25-year-old male who came to endocrine clinic to get medical certificate so as to claim as the shortest man of the world. He was evaluated for short stature and eventually diagnosed with type-IV mucopolysaccharidosis (MPS) or Morquio syndrome.
Syed Khalid, Imam, Asim, Hassan, Syed Khurram, Shahid   +2 more
openaire   +1 more source

Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature

Indian Journal of Dental Research, 2007
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia.
Kurian K, Shanmugam S, Harsh Vardah T, Gupta Siddharth   +3 more
doaj  

Morquio syndrome

, 2010
Basab Bhattacharya, Liz Silverstone, Arlene Campos   +2 more
openaire   +1 more source

Morquio Syndrome [PDF]

, 2020
openaire   +1 more source

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. [PDF]

Int J Mol Sci, 2020
Nakamura-Utsunomiya A, Nakamae T, Kagawa R, Karakawa S, Sakata S, Sakura F, Tani C, Matsubara Y, Ishino T, Tajima G, Okada S.   +10 more
europepmc   +1 more source

Correction to "Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA)". [PDF]

ACS Omega
Priya N M, Vasudevan V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

Novel Approach for Tracheal Resection in Morquio A Syndrome with End-stage Critical Airway Obstruction: A UK Case Series

, 2023
Kenth J, Maughan E, Butler C, Gabrie J, Rouhani M, Silver B, Ogunbiy O, Wilkinson S, Nandi R, Walker R, Muthialu N, Jones S, Hewitt R, Bruce I.   +13 more
europepmc   +1 more source

Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up. [PDF]

Case Rep Dent, 2020
Gómez-González A, Rosales-Berber MÁ, De Ávila-Rojas P, Pozos-Guillén A, Garrocho-Rangel A.   +4 more
europepmc   +1 more source

Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]

ACS Omega
Priya M, Vasudev V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

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