Results 31 to 40 of about 13,719 (226)

THE PORPHYRIAS

British Medical Bulletin, 1968
No abstract available.
openaire   +4 more sources

Nutritional Regulation of Hepatic Heme Biosynthesis and Porphyria through PGC-1α [PDF]

, 2005
Inducible hepatic porphyrias are inherited genetic disorders of enzymes of heme biosynthesis. The main clinical manifestations are acute attacks of neuropsychiatric symptoms frequently precipitated by drugs, hormones, or fasting, associated with ...
Lin, J., Handschin, Christoph, Rhee, James, Peyer, Anne-Kathrin, Meyer, Urs A, Spiegelman, Bruce M., Handschin, C., Spiegelman, Bruce M, Meyer, U. A., Lin, Jiandie, Rhee, J., Wu, P. -H., Peyer, A. -K., Chin, Sherry, Meyer, Urs A., Spiegelman, B. M., Chin, S., Wu, Pei-Hsuan   +17 more
core   +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

The Porphyrias

Dermatologic Clinics, 1987
The porphyrias are a group of disorders of heme metabolism that result from partial defects in the several enzymes that control heme biosynthesis. Accumulation of porphyrins or porphyrin precursors in several different patterns results from these defects and biochemically characterizes each specific syndrome.
openaire   +2 more sources

Multiple sclerosis or neuromyelitis optica? Re-evaluating an 18th-century illness using 21st-century software.

, 2012
In this paper we report the application of an extensive database of symptoms, signs, laboratory findings and illnesses, to the diagnosis of an historical figure.
Garrard, P, Peters, TJ
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

An overview of the cutaneous porphyrias [version 1; referees: 2 approved]

F1000Research, 2017
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj   +1 more source

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Orphanet Journal of Rare Diseases, 2020
Background Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent ...
Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson, Janneke G. Langendonk   +3 more
doaj   +1 more source

Update on Menopause Hormone Therapy; Current Indications and Unanswered Questions

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To provide clinicians involved in managing menopause with a summary of current evidence surrounding menopause hormone therapy (MHT). Design The authors evaluate and synthesize existing pooled evidence relating to MHT's clinical indications, efficacy, and safety and explore the limitations of existing data. Patients The review focuses
Annice Mukherjee, Susan R. Davis
wiley   +1 more source

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension

Medical Sciences
Secondary hypertension and resistant hypertension may result from potentially treatable acquired or hereditary diseases. Inherited Metabolic Disorders are not routinely included in the differential diagnosis of these contexts associated with hypertension,
Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, João Paulo Barile, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Daniel Delgado Seneor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source