Results 81 to 90 of about 3,451 (171)

Inappropriate Antidiuresis: Examples of an Hyponatremic Syndrome Resembling Exogenous Vasopressin Administration in Man [PDF]

, 1966
We have reviewed some of the features of hyponatremic syndromes, unassociated with sodium retention and edema, but associated with primary water retention.
Bower, John D., Kirkland, Richard H., Klingler, Eugene L., Lancestremere, Ruben G., Magee, Joseph H.   +4 more
core   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Homotransplantation of the liver in a patientwith hepatoma and hereditary tyrosinemia [PDF]

, 1978
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted inphenylalanine and tyrosine. At 91/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The
Arnold Silverman, Bolstein, Bélanger, Carver, Chakrabarti, Daloze, Doris Doeden, Edward R.B. McCabe, Fish, Gentz, Gentz, Halsted, Halvorsen, Hardwick, Jerry G. Kohlhoff, Jones, Kang, Kasai, Lawrence J. Koep, Lindblad, Lindemann, MacSween, McCaman, Phillips, Piomelli, Robert O. Fisch, Sandell, Scriver, Starzl, Strife, Thomas E. Starzl, Tomokuni, Weinberg, Williams, Williams   +34 more
core   +1 more source

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, Volume 45, Issue 7, July 2025.
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Brendan McGuire, John Phillips, D. Montgomery Bissell, Bruce Wang   +11 more
wiley   +1 more source

Transient and intensive pharmacological immunosuppression fails to improve AAV-based liver gene transfer in non-human primates [PDF]

, 2012
BACKGROUND: Adeno-associated vectors (rAAV) have been used to attain long-term liver gene expression. In humans, the cellular immune response poses a serious obstacle for transgene persistence while neutralizing humoral immunity curtails re ...
Alfaro, C. (Carlos), Beattie, S.G. (Stuart G.), Benito, A. (Alberto), Fontanellas, A. (Antonio), Hervas-Stubbs, S. (Sandra), Mancheño, U. (Uxua), Mauleon, I. (Itsaso), Melero, I. (Ignacio), Pety, H. (Harald), Prieto, J. (Jesús), Salamanca, E. (Enrique) de, Sampedro, A. (Ana), Unzu, C. (Carmen)   +12 more
core  

Porfiria aguda intermitente: relato de caso e revisão da literatura Acute intermittent porphyria: case report and review of the literature

Revista Brasileira de Terapia Intensiva, 2008
Porfiria aguda intermitente é patologia incomum, com conseqüências potencialmente graves se não reconhecida precocemente. Dentre as possíveis causas de indução de crises de porfiria, a redução da ingestão calórica é descrita na literatura.
Daniela von Ah Lopes, Marcelo Araújo do Valle, Jéfferson Taguti, Regina Celli Thomé Castro Taguti, Gustavo Navarro Betônico, Fabiana Clemente Medeiros   +5 more
doaj   +1 more source

X-ray structure of a putative reaction intermediate of 5-aminolaevulinic acid dehydratase [PDF]

, 2003
The X-ray structure of yeast 5-aminolaevulinic acid dehydratase, in which the catalytic site of the enzyme is complexed with a putative cyclic intermediate composed of both substrate moieties, has been solved at 0.16 nm (1.6 A) resolution.
Brindley, Amanda A., Butler, Danica, Coates, Leighton, Cooper, Jonathan B., Erskine, Peter T., Shoolingin-jordan, Peter M., Warren, Martin J., Wood, Steve P., Youell, James H.   +8 more
core   +2 more sources

Porphyria Presenting as Diffuse Encephalopathy

Pediatric Neurology Briefs, 2005
An 18-year-old female presenting with seizures, myalgias, abdominal pain, headache and vomiting had multiple large contrast-enhancing white matter lesions on MRI and was diagnosed with acute intermittent porphyria (AIP), in a report from the Department ...
J Gordon Millichap
doaj   +1 more source

LABRAD : Vol 34, Issue 3 - October 2009 [PDF]

, 2009
Detection of Amoebic Meningitis by Wet Film of Cerebrospinal Fluid (CSF) Biochemical Tests in the Diagnosis of Anaemia Pathophysiology and Laboratory Investigation in Anaemia of Chronic Disease Haematogones: A pitfall in the Diagnosis of Leukemias ...
Aga Khan University Hospital, Karachi
core   +1 more source

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells [PDF]

, 2014
Heme biosynthesis begins in the mitochondrion with the formation of delta-aminolevulinic acid (ALA). In acute intermittent porphyria, hereditary tyrosinemia type I and lead poisoning patients, ALA is accumulated in plasma and in organs, especially the ...
C. Homedan, C. Jacques, C. Schmitt, H. Puy, J. Laafi, M.C. Martinez, N. Gueguen, P. Reynier, Y. Malthièry   +8 more
core   +4 more sources