Aminoaciduria Renal
Mostrando 1-8 de 8 artigos, teses e dissertações.
-
1. Pelagra endógena e ataxia cerebelar sem aminoacidúria: doença de Hartnup?
Menino, 7 anos, com história de convulsão, hiperpigmentação cutânea em áreas de exposição solar e episódios recorrentes de ataxia cerebelar. Estabelecido diagnóstico clínico de doença de Hartnup, foi tratado com nicotinamida, com melhora. Análises não confirmaram aminoacidúria ou outras alterações metabólicas. Na doença de Hartnup ocorre d
Anais Brasileiros de Dermatologia. Publicado em: 2006-10
-
2. INVESTIGATION OF THE AMINOACIDURIA IN WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION): DEMONSTRATION OF A DEFECT IN RENAL FUNCTION 1
-
3. Adult Fanconi syndrome and multiple myelomatosis
A case is described of a 59-year-old woman presenting with multiple renal tubular defects. The aminoaciduria was of a generalized type. When investigated initially the only feature of myelomatosis was urinary Bence-Jones protein. Two years later radiologically classical multiple myelomatosis developed and rapidly progressed to the patient's death nine months
-
4. Renal ultrastructure, renal function, and parameters of lead toxicity in workers with different periods of lead exposure
Cramér, K., Goyer, R. A., Jagenburg, R., and Wilson, Marion H. (1974).British Journal of Industrial Medicine,31, 113-127. Renal ultrastructure, renal function, and parameters of lead toxicity in workers with different periods of lead exposure. Renal biopsies were obtained from five men with heavy occupational exposure to lead and compared with studies of th
-
5. Osteomalacia Due to 1α,25-Dihydroxycholecalciferol Deficiency: ASSOCIATION WITH A GIANT CELL TUMOR OF BONE
Oncogenic osteomalacia is a syndrome in which unexplained osteomalacia remits after resection of a coexisting mesenchymal tumor. We have investigated the mechanism by which a giant cell tumor of bone caused biopsy-proved osteomalacia in a 42-yr-old woman. The biochemical abnormalities were: hypophosphatemia; decreased renal tubular maximum for the reabsorpti
-
6. Stimulation of the Hydrolytic Activity and Decrease of the Transpeptidase Activity of γ-Glutamyl Transpeptidase by Maleate; Identity of a Rat Kidney Maleate-Stimulated Glutaminase and γ-Glutamyl Transpeptidase
γ-Glutamyl transpeptidase catalyzes transfer of the γ-glutamyl moiety of glutathione (and other γ-glutamyl compounds) to amino acid and peptide acceptors; this reaction probably involves (a) formation of a γ-glutamyl enzyme and (b) reaction of the γ-glutamyl-enzyme with an acceptor. Maleate decreases the latter reaction and markedly increases hydrolysis
-
7. Increased Insulin Sensitivity in Mice Lacking Collectrin, a Downstream Target of HNF-1α
Collectrin is a downstream target of the transcription factor hepatocyte nuclear factor-1α (HNF-1α), which is mutated in maturity-onset diabetes of the young subtype 3 (MODY3). Evidence from transgenic mouse models with collectrin overexpression in pancreatic islets suggests divergent roles for collectrin in influencing β-cell mass and insulin exocytosis.
The Endocrine Society.
-
8. Biological Effects of Short-Term or Prolonged Administration of 9-[2-(Phosphonomethoxy)Propyl]Adenine (Tenofovir) to Newborn and Infant Rhesus Macaques
The reverse transcriptase inhibitor 9-[2-(phosphonomethoxy)propyl]adenine (PMPA; tenofovir) was previously found to offer strong prophylactic and therapeutic benefits in an infant macaque model of pediatric human immunodeficiency virus (HIV) infection. We now summarize the toxicity and safety of PMPA in these studies. When a range of PMPA doses (4 to 30 mg/k
American Society for Microbiology.