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The metabolic and molecular bases of Cockayne syndrome [Las bases metabólicas y moleculares del síndrome de Cockayne]
(2010)
Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, ...
The metabolic and molecular bases of Cockayne syndrome [Las bases metabólicas y moleculares del síndrome de Cockayne]
(2010)
Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, ...
Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family
(2017)
Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic ...
Biología, patobiología y bioclínica de la homocisteína eh la especie humana
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2010-06-01)
Processo oxidativo em doadores de sangue portadores de hemoglobina S e mutantes no gene HFE
(Universidade Estadual Paulista (Unesp), 2008-02-27)
As hemoglobinopatias são as mais comuns das doenças genéticas e são classificadas em Talassemias e Variantes de Hemoglobinas. A Hb S é originada por uma mutação de ponto no códon que origina o aminoácido da posição seis ...
Processo oxidativo em doadores de sangue portadores de hemoglobina S e mutantes no gene HFE
(Universidade Estadual Paulista (Unesp), 2008-02-27)
As hemoglobinopatias são as mais comuns das doenças genéticas e são classificadas em Talassemias e Variantes de Hemoglobinas. A Hb S é originada por uma mutação de ponto no códon que origina o aminoácido da posição seis ...
Homocystinuria, Case ReportHomocistinuria, reporte de un casoHomocistinúria, relato de um caso
(Universidad Militar Nueva Granada, 2020)
Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency
(1988)
There have been a small number of patients reported with inherited disorders of
gluconeogenesis. We studied a female patient with fructose-1,6-diphosphatase
(FDPase; EC 3.1.3.11) deficiency (McKusick 22970), born of ...
Clinical manifestations and treatment of mucopolysaccharidosis type i patients in Latin America as compared with the rest of the world
Background Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler- Scheie, and Scheie syndromes. There may be ...