Results 101 to 110 of about 21,613 (172)

Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management

Children
Pulmonologists may be involved in managing pulmonary diseases in children with complex clinical pictures without a diagnosis. Moreover, they are routinely involved in the multidisciplinary care of children with rare diseases, at baseline and during ...
Chiara Montanari, Veronica Maria Tagi, Enza D’Auria, Vincenzo Guaia, Anna Di Gallo, Michele Ghezzi, Elvira Verduci, Laura Fiori, Gianvincenzo Zuccotti   +8 more
doaj   +1 more source

The Pathology of the Feline Model of Mucopolysaccharidosis I [PDF]

, 1983
Five cats with feline α-L-iduronidase-deficient mucopolysaccharidosis were studied. Membrane-bound cytoplasmic inclusions were present in central nervous system neurons, hepatocytes, chondrocytes, vascular and splenic smooth muscle cells, bone marrow ...
Haskins, Mark E, Desnick, Robert J, Jezyk, Peter F, Patterson, Donald F, Aguirre, Gustavo D   +4 more
core  

Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with idursulfase

, 2012
Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with ...
VOLPI, Nicola
core  

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing. [PDF]

JIMD Rep
Cifuentes-Uribe K, Girard S, Froissart R, Pettazzoni M, Guffon N.   +4 more
europepmc   +1 more source

Morquio A syndrome associated with bilateral hydroureteronephrosis and neurogenic bladder: a rare case report and review of the literature. [PDF]

BMC Pediatr
Gaur BK, Gupta S, Pir IA, Jain S.
europepmc   +1 more source

Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing. [PDF]

JIMD Rep
Choi S, Kim H, Cho TJ, Ko JM.
europepmc   +1 more source

Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program. [PDF]

Anim Genet
Bezerra FCM, Belli LSBP, Novais JMCB, Ibelli AMG, Santos CRO, Gouveia GV, Macedo ATM, Gouveia JJS.   +7 more
europepmc   +1 more source

Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series. [PDF]

Clin Case Rep
Bella A, Dafallah MA, Fadlalla AY, Elmardi BF, Alataya YM, Abdalla AA, Ibrahim MAA, Nugud MF, Babiker SEA, Al Amin HF, Mohammed SAY, Mohammed ME.   +11 more
europepmc   +1 more source

Mucopolysaccharidosis type IIIA and IIIC phenotypic progression: A case series. [PDF]

Mol Genet Metab Rep
Naal-Chan P, Echeverria-Ortegon E, Couoh-Castañeda JD, Millet-Herrera JL, Solis-Baeza FC, Perez-Garcia ME, Rivera-Lavalle JS, Castillo-Espinola AM, Reyes-Flores OB, Campos-Garcia FJ.   +9 more
europepmc   +1 more source

Airway management of mucopolysaccharidosis with cervical spine involvement

, 2005
Mucopolysaccharidoses are a group of inherited disorders occasionally accompanied by cervical spine involvement complicating tracheal intubation.
AYPAR, ÜLKÜ, Sahin, Altan, Dal, Didem, Ocal, Turgay   +3 more
core