Results 101 to 110 of about 543 (145)
Algunos desafíos en mucopolisacaridosis tipo I
Archivos Argentinos de Pediatria, 2021 openaire +1 more source
Mucopolisacaridosis tipo VI (síndrome Maroteaux-Lamy) en la cultura precolombina de Colombia.
, 2015 Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff ...
Pachajoa Londoño, Harry Mauricio +1 more
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Mucopolisacaridosis tipo VI (síndrome Maroteaux-Lamy) en la cultura precolombina de Colombia
, 2019 La mucopolisacaridosis tipo VI o síndrome de Maroteaux Lamy es una enfermedad de depósito lisosomal autosómica recesiva que resulta de una deficiencia de la enzima arilsulfatasa B, las características clínicas incluyen talla baja, hepatoesplenomegalia ...
Pachajoa, Harry +1 more
core
[Systematic review on treatment adherence in people diagnosed with Inborn Errors of Metabolism and their families] [PDF]
Rev Fac Cien Med Univ Nac CordobaBossie M, Assalone F, Ortega J.
europepmc +1 more source
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021. [PDF]
Epidemiol Serv SaudeCarvalho EA +10 more
europepmc +1 more source
Repercusiones orales de la mucopolisacaridosis en el paciente infantil
, 2020 BASIS. Mucopolysaccharidosis (MPS) are a group of rare genetic disorders. They characterize by some lisosomal enzyme errors which provoke GAG acumulation in the connective tissue, triggering different levels of multi-organ dysfunction. AIM. The goal is to get to know the MPS concept, their pathologyes, types of diseases and, especially, their oral ...
openaire +2 more sources
[Medical genetics services in VenezuelaServiços de genética médica na Venezuela].
Rev Panam Salud Publica, 2018 Torre-Hernandez CA +4 more
europepmc +1 more source
Mucopolisacaridosis, la anestesia regional es nuestra mejor aliada [PDF]
Resúmenes de trabajos libres congreso CLASA 2019, 2019 openaire +1 more source