Results 11 to 20 of about 21,981 (227)

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

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   +5 more sources

The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias. [PDF]

Ann Clin Transl Neurol
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Pacut P, Cannon J, Dixit N, Fan Q.
europepmc   +2 more sources

Lead Poisoning Revealed by Unexplained Abdominal Pain and Anemia in a Young Adult: A Diagnostic Challenge. [PDF]

Clin Case Rep
ABSTRACT Lead poisoning should be considered in patients presenting with unexplained anemia and abdominal pain, even without clear environmental or occupational exposure. Recognizing classic signs such as Burton's line and basophilic stippling enables timely diagnosis and effective chelation therapy.
Eichler J, Albrecht S, Huber LC.
europepmc   +2 more sources

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]

JIMD Rep
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model. [PDF]

J Intern Med
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Di Pierro E, Solares I, Jericó D, Castelbón FJ, Solera JT, Riera-Mestre A, Barreda-Sánchez M, Poci C, Nicolli A, Urigo F, Sampedro A, de Salamanca RE, Marcacci M, Ávila MA, Harper P, Fanlo-Maresma MG, Guillén-Navarro E, Graziadei G, Wenzel A, Beck BB, Ventura P, Morales-Conejo M, Fontanellas A.   +22 more
europepmc   +2 more sources

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]

, 2020
PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bonkovsky, Herbert L, Desnick, Robert J, Erwin, Angelika, Keel, Siobán, Levy, Cynthia, McGuire, Brendan, Montgomery, Guy H, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Wang, Bruce, Winkel, Gary   +14 more
core   +1 more source

Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]

, 2001
Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Dühmke, Eckhart, Panzer, M., Schaffer, Moshe, Schaffer, Pamela Manuela, Wilkowski, R.   +4 more
core   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Urinary porphyrin excretion in hepatitis C infection [PDF]

, 1999
A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl, Vogeser, Michael, Zachoval, Reinhart   +2 more
core   +1 more source

Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]

, 2011
Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE, Deacon AC, Mauzerall D, Pierach CA, Schreiber WE   +4 more
core   +1 more source