Inborn Errors Of Metabolism
Mostrando 25-36 de 61 artigos, teses e dissertações.
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25. Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism
The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. It covers about 286 cities of the Bauru region and 420 collection spots. Their activities include screening, diagnosis, treatment and as
Journal of Applied Oral Science. Publicado em: 2009
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26. Estudo molecular da hiperplasia adrenal congenita por deficiencia da enzima 21-hidroxilase correlação genotipo-fenotipo
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21OHD) is one of the most common inborn metabolism errors. It presents a wide spectrum of clinical manifestations, varying from a severe form with prenatal virilization and neonatal dehydration to a mild form in which the signs appear around puberty onset. It presents recessive autosomal in
Publicado em: 2002
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27. Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
CONTEXTO: Os erros inatos do metabolismo são afecções hereditárias resultantes da incompetência de reações do metabolismo intermediário. Atualmente já são conhecidos centenas de distúrbios metabólicos hereditários, muitos deles correspondendo a enfermidades graves que evoluem com freqüência para o óbito, ou causam seqüelas importantes, princ
Sao Paulo Medical Journal. Publicado em: 06/09/2001
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28. Inborn Errors of Metabolism
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29. Advances in the Treatment of Inborn Errors of Metabolism
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30. Recent Advances in Inborn Errors of Metabolism
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31. The Laboratory Diagnosis of Selected Inborn Errors of Metabolism
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32. Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism
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33. INBORN ERRORS OF METABOLISM PART 2. LABORATORY METHODS
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34. Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism (Bibliotheca Ophthalmologica No. 84)
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35. The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience
BioMed Central.
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36. Value of serum C-reactive protein measurement in the management of bone marrow transplant recipients. Part II: Late post-transplant period.
Seventeen bone marrow recipients transplanted for acute leukaemia (8), chronic leukaemia (1), severe aplastic anaemia (3), and various inborn errors of metabolism (5) had 22 episodes of documented infection in the late (greater than 3 months) post-transplant period. Serum C-reactive protein concentrations were considerably increased in patients with bacteria