Results 71 to 80 of about 5,240 (183)

Early-onset osteoporosis with high bone turnover in children with Morquio-Brailsford syndrome

, 2006
Early-onset osteoporosis with high bone turnover is presented for pediatric patients affected by mucopolysaccharidosis type IV or Morquio-Brailsford ...
Rigante D.
core   +1 more source

Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108. [PDF]

Diagnostics (Basel), 2020
Barak S, Anikster Y, Sarouk I, Stern E, Eisenstein E, Yissar T, Sherr-Lurie N, Raas-Rothschild A, Guttman D.   +8 more
europepmc   +1 more source

Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing

Respiratory Medicine Case Reports
Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway.
Minghan Shi, Birubi Biman
doaj   +1 more source

Audiological evaluation in mucopolysaccharidosis: study of the occurrence, type and degree of hearing loss [PDF]

, 2011
Introdução: As mucopolissacaridoses (MPS) correspondem a um grupo de doenças causadas por uma deficiência nas enzimas lisossomais envolvidas no metabolismo dos mucopolissacarídeos.
Silveira, Marcela Rosana Maia da [UNIFESP]
core  

Child with mucopolysaccharidosis type IV: Morquio syndrome [PDF]

International Journal of Case Reports and Images, 2015
Eswat Ahmad, Sabina Manandhar, Ali Akhtar   +2 more
openaire   +1 more source

Mucopolysaccharidosis

, 2015
The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities.
Nicole Ruas Guarany PhD, Borges,Mariana Dumer, Guarany,Nicole Ruas, Ana Paula Vanz MD, Schwartz,Ida Vanessa Doederlein, Ida Vanessa Doederlein Schwartz PhD, Daniele Dorneles Bender, Roberto Giugliani PhD, Mariana Dumer Borges, Bender,Daniele Dorneles, Wilke,Matheus Vernet Machado Bressan, Matheus Vernet Machado Bressan Wilke, Giugliani,Roberto, Vanz,Ana Paula   +13 more
core   +1 more source

Profile of Egyptian Patients with Mucopolysaccharidosis

, 2009
Background: Mucopolysaccharidoses (MPS) are chronic progressive lysosomal disorders (Six distinct types) which are inherited as autosomal recessive except MPS II which is inherited as X-linked recessive disorder Patients and Methods: This study is ...
Shawky, RM, Refaat, MM, Eldin, NM, Zaki, EA, Fateen, EM   +4 more
core  

Role of elosulfase alfa in mucopolysaccharidosis IVA

The Application of Clinical Genetics, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier DS, Tanpaiboon P
doaj  

Mucopolysaccharidosis and Its Orthopedic Manifestations – A Review

Mucopolysaccharidosis (MPS) represents a group of rare, inherited lysosomal storage disorders characterized by defective enzymatic degradation of glycosaminoglycans (GAGs).
A. Manoharan
core  

Association of diabetes mellitus type I and mucopolysaccharidosis type IV A: case report

   Introdução: O diabetes mellitus do tipo I (DM1) é uma doença crônica causada pela deficiência de insu­lina devido a destruição das células beta pancreáticas produtoras por um mecanismo de autoimunidade.
Sant’Ana Alves, Rachel, Euridice Carvalho de Alencar, Filomena, Cruz Hegner, Christina, de Souza Rodrigues, Maria do Carmo   +3 more
core   +1 more source