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Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?

Chavarriaga J.; Ocampo M.; Fakih N.; Silva Herrera J.

Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting ...

Psychiatric Disorders Secondary to Neurometabolic Disorders

Herrera P.M.; Velez-van-Meerbeke, Alberto; Bonnot O.

Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and ...

Diagnose of Homocistinuria and Deficiency of Adenilosuccinato Liasa Through Technical Chemical, Biochemical and Molecular.Diagnóstico de Homocistinuria y Deficiencia de Adenilosuccinato Liasa a Través de Técnicas Químicas, Bioquímicas y Moleculares.

Bermúdez PhD, Marta; Carrillo Bsc, Yina

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder.

Kohan, R.; Cismondi, I.A.; Adams, H.; Bond, M.; Brown, R.; Cooper, J.D.; Krupnik de Hidalgo, P.; Kleine Holthaus, S.M.; Mole, S.E.; Mugnaini, J.; Oller de Ramirez, A.M.; Pesaola, F.; Platt, F.M.; Noher de Halac, I.; Rautenberg, G. (Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease., 2015)

This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's ...

“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era

Pesaola, Favio; Guelbert, Guillermo; Venier, Ana Clara; Cismondi, Inés Adriana; Becerra, Adriana; Vazquez, Juan Carlos G; Fernandez, Elmer; De Paul, Ana Lucia; Guelbert, Norberto; Noher, Inés (2021)

Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are ...