Results 161 to 170 of about 4,093 (193)

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder. [PDF]

Genes (Basel)
Reyes-Silva C, Gallardo-Vizuete J, Guzmán-Acán J, Jaramillo-Koupermann G, Cabrera-Andrade A.   +4 more
europepmc   +1 more source

Human, economic, and social impact of lysosomal storage diseases. [PDF]

Orphanet J Rare Dis
Brignani E, de Castro-López MJ, Gonzalez-Meneses A, Morales M, Pintos-Morell G, Poveda JL, Vilalta I, Cruz J, Ballester-Lozano GF, David de Paz H.   +9 more
europepmc   +1 more source

Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy. [PDF]

Orphanet J Rare Dis
Xu Y, Fang X, Luo C, Zhou C, Wang J, Mi Y, Xie J, Shen M.   +7 more
europepmc   +1 more source

Clavicular Head Subluxation Resulting in Tracheal Compromise in an Osteogenesis Imperfecta Type III Patient: A Case Report. [PDF]

Cureus
Oommen A, Froass D, Dobish M.
europepmc   +1 more source

Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience. [PDF]

Mol Genet Metab Rep
Sadiku F, Rutz T, Superti-Furga A, Monney P, Tran C.   +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. [PDF]

Orphanet J Rare Dis
Kenth J, Maughan E, Butler CR, Gabrie J, Rouhani M, Silver B, Ogunbiyi OK, Wilkinson S, Nandi R, Walker R, Muthialu N, Jones S, Hewitt R, Bruce IA.   +13 more
europepmc   +1 more source

Morquio-Brails Ford's disease--a mucopolysaccharide disorders.

Indian pediatrics, 1979
openaire   +1 more source

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Morquio Syndrome: A Rehabilitation Perspective

The Journal of Spinal Cord Medicine, 1996
Morquio Syndrome (mucopolysaccharidosis type IV A) is a rare inherited connective tissue disorder characterized by skeletal dysplasia, restrictive pulmonary disease and normal intelligence. Tetraplegia secondary to subluxation of C1 over C2 because of odontoid dysplasia is a common occurrence in these patients but there are limited descriptions ...
M S, Gulati, M A, Agin
openaire   +2 more sources

Morquio-Ullrich Disease

The Journal of Bone & Joint Surgery, 1964
Three cases of Morquio-Ullrich disease have been presented. The disease is characterized by clinical and roentgenographic findings, similar to those found in Morquio-Brailsford disease, with the additional findings of cloudiness of the corneas, hepatosplenomegaly, Reilly granulations in the leukocytes, and urinary excretion of large amounts of ...
I F, GOIDANICH, L, LENZI
openaire   +2 more sources