Results 91 to 100 of about 16,235 (263)

Carrier detection and phenotypic expression in a family with hereditary coproporphyria [PDF]

, 2007
University of Technology, Sydney. Faculty of Science.Introduction: Hereditary coproporphyria (HCP) is an autosomal dominant disorder that results from defects in the enzyme coproporphyrinogen oxidase (CPOX).
Al Hafid, N
core  

Fibulin-1 is a marker for arterial extracellular matrix alterations in type 2 diabetes [PDF]

, 2011
Extracellular matrix alterations are important elements in the arterial changes seen in diabetes, being associated with increased vascular stiffness and the development of cardiovascular diseases.
Aagard, Jan, Argraves, William Scott, Cangemi, Claudia, Funder, Jonas Amstrup, Gall, Mari-Anne, Henriksen, Jan Erik, Hjortdal, Vibeke E., Høilund-Carlsen, Poul-Flemming, Jespersen, Marie Louise, Knudsen, Steen, Kruse, Torben A, Parving, Hans-Henrik, Poulsen, Michael Kjaer, Rasmussen, Lars Melholt, Rossing, Peter, Skov, Vibe, Twal, Waleed O   +16 more
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Sunscreens - Which and what for? [PDF]

, 2005
It is well established that sun exposure is the main cause for the development of skin cancer. Chronic continuous UV radiation is believed to induce malignant melanoma, whereas intermittent high-dose UV exposure contributes to the occurrence of actinic ...
Ananthaswamy HN, Autier P, Azurdia RM, Birt DF, Bush JA, Damian DL, Darlington S, Gallagher RP, Gers-Balag H, Gil EM, Green A, Hallmans G, Hany J, Katiyar SK, Kipp C, Kricker A, Krutman J, Kunz PY, Lapidot N, Levy SB, Loeppky R, Mackie B, Mc Vean M, Mitchnik M, Montemarano AD, Noonan FP, Okereke CS, Perugini P, Petersen AB, Pinnell SR, Poh Agin P, Poon TS, Record IR, Rouabia M, Runger TM, Sayre RM, Scalia S, Schauder S, Schlumpf M, Schrader K, Schulz J, Schwarz VA, Stern RS, Tebbe B, Wamer W, Wang ZY, Wolf R, Wulf HC, Yarosh D, Zhao J   +49 more
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Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Medical Journal, 2018
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj   +1 more source

Feasibility of cellular bioenergetics as a biomarker in porphyria patients

Molecular Genetics and Metabolism Reports, 2019
Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress.
Balu Chacko, Matilda Lillian Culp, Joseph Bloomer, John Phillips, Yong-Fang Kuo, Victor Darley-Usmar, Ashwani K. Singal   +6 more
doaj   +1 more source

Neurological Manifestations and Neuroimaging Findings of Acute Intermittent Porphyria Patients

, 2022
Anlei Liu, Jian Cao, Fei Han, Qianlong Chen, Hui You, Haudong Zhu, Jing Yang   +6 more
openalex   +1 more source

Acute porphyrias and porphyric neuropathy

Southwest Respiratory and Critical Care Chronicles, 2016
The porphyrias are a group of uncommon inherited metabolic disorders of heme biosynthesis. Acute porphyrias are specific types of porphyrias characterized by the presence of acute attacks that usually present with abdominal pain, psychiatric symptoms ...
Doungporn Ruthirago, Parunyou Julayanont, Supannee Rassameehiran   +2 more
doaj  

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
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Evidence based cardiology - Psychosocial factors in the aetiology and prognosis of coronary heart disease: systematic review of prospective cohort studies [PDF]

, 1999
Summary points: In healthy populations, prospective cohort studies show a possible aetiological role for type A/hostility (6/14 studies), depression and anxiety (11/11 studies), psychosocial work characteristics (6/10 studies), social support (5/8 ...
Hemingway, H., Marmot, M.
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Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh, Manisha Balwani, David C. Rees, Karl E. Anderson, Gang Jia, Marianne T. Sweetser, Bruce Wang   +6 more
doaj   +1 more source