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Page 1
Clinical Guide and Update on Porphyrias.
Stölzel U, Doss MO, Schuppan D. Stölzel U, et al. Gastroenterology. 2019 Aug;157(2):365-381.e4. doi: 10.1053/j.gastro.2019.04.050. Epub 2019 May 11. Gastroenterology. 2019. PMID: 31085196 Review.
Patients with variegate porphyria and hereditary coproporphyria can present with skin photosensitivity. Diagnosis relies on measurement of increased urinary 5-aminolevulinic acid (in patients with aminolevulinic acid dehydratase deficient porphyria) or increased
Patients with variegate porphyria and hereditary coproporphyria can present with skin photosensitivity. Diagnosis relies on measurement of …
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
Solares I, Jericó D, Córdoba KM, Morales-Conejo M, Ena J, Enríquez de Salamanca R, Fontanellas A. Solares I, et al. Int J Mol Sci. 2022 Dec 20;24(1):51. doi: 10.3390/ijms24010051. Int J Mol Sci. 2022. PMID: 36613492 Free PMC article. Review.
Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, delta-aminolevulinic acid (ALA) and porphobil
Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks ass
[Porphyrias].
Stölzel U, Stauch T, Doss MO. Stölzel U, et al. Internist (Berl). 2010 Dec;51(12):1525-33; quiz 1534. doi: 10.1007/s00108-010-2751-x. Internist (Berl). 2010. PMID: 21104216 Review. German.
The clinical presentation of the acute hepatic porphyria syndrome includes abdominal, psychiatric, neurological and cardiovascular symptoms. The diagnosis is based on a tenfold increased urinary excretion of porphobilinogen (apart from Doss porphyria). ...
The clinical presentation of the acute hepatic porphyria syndrome includes abdominal, psychiatric, neurological and cardiovascular symptoms. …
Porphyria attacks in prepubertal children and adolescents.
Jaramillo-Calle DA, Martinez YA, Balwani M, Fernandez C, Toro M. Jaramillo-Calle DA, et al. Mol Genet Metab. 2021 Jul;133(3):242-249. doi: 10.1016/j.ymgme.2021.04.008. Epub 2021 May 7. Mol Genet Metab. 2021. PMID: 34083144 Review.
STUDY SELECTION: Studies describing symptomatic children or adolescents (<18 years old) with increased urinary porphobilinogen were included. DATA EXTRACTION: Two reviewers independently extracted the data, with a third reviewer arbitrating discrepancies. …
STUDY SELECTION: Studies describing symptomatic children or adolescents (<18 years old) with increased urinary porphobil
Recommendations for the diagnosis and treatment of the acute porphyrias.
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Anderson KE, et al. Ann Intern Med. 2005 Mar 15;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010. Ann Intern Med. 2005. PMID: 15767622 Review.
The diagnosis can be rapidly confirmed by demonstration of a markedly increased urinary porphobilinogen level by using a single-void urine specimen. This specimen should also be saved for quantitative measurement of porphobilinogen, 5-aminolevulinic ac …
The diagnosis can be rapidly confirmed by demonstration of a markedly increased urinary porphobilinogen level by using …
Molecular diagnostics of acute intermittent porphyria.
Kauppinen R. Kauppinen R. Expert Rev Mol Diagn. 2004 Mar;4(2):243-9. doi: 10.1586/14737159.4.2.243. Expert Rev Mol Diagn. 2004. PMID: 14995910 Review.
During an acute attack, which includes various neurovisceral symptoms, measurement of urinary porphobilinogen (PBG) is a method of choice to confirm diagnosis, and DNA testing is unnecessary at that stage. ...The clinical utility of DNA testing is limited for those …
During an acute attack, which includes various neurovisceral symptoms, measurement of urinary porphobilinogen (PBG) is a metho …
Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology.
Bonkovsky HL, Barnard GF. Bonkovsky HL, et al. Semin Liver Dis. 1998;18(1):57-65. doi: 10.1055/s-2007-1007141. Semin Liver Dis. 1998. PMID: 9516679 Review.
If neurovisceral features suggest an acute porphyric syndrome, a rapid screening test for urinary porphobilinogen should be performed. If clinical features suggest a cutaneous porphyria, then for solar urticaria and acute photosensitivity (suggesting protoporphyria) …
If neurovisceral features suggest an acute porphyric syndrome, a rapid screening test for urinary porphobilinogen should be pe …
Alcohol-induced changes in urinary aminolevulinic acid and porphyrins: unrelated to liver disease.
Schoenfeld N, Mamet R, Leibovici L, Lanir A. Schoenfeld N, et al. Alcohol. 1996 Jan-Feb;13(1):59-63. doi: 10.1016/0741-8329(95)02013-6. Alcohol. 1996. PMID: 8837936 Review.
Urinary porphyrins and their metabolites aminolevulinic acid (ALA) and porphobilinogen (PBG) were determined in 15 normal volunteers and in 45 alcoholics, subdivided into three groups according to their liver function tests and histology: alcoholics exhibiting no ev
Urinary porphyrins and their metabolites aminolevulinic acid (ALA) and porphobilinogen (PBG) were determined in 15 normal volu
Syndrome of inappropriate antidiuretic hormone secretion associated with coproporphyria: case report and review of literature.
Seshabhattar P, Morrow JS. Seshabhattar P, et al. Endocr Pract. 2007 Mar-Apr;13(2):164-8. doi: 10.4158/EP.13.2.164. Endocr Pract. 2007. PMID: 17490931 Review.
Brain, chest, abdominal, and pelvic imaging studies were negative for occult malignant disease. Urinary excretions of porphobilinogen and aminolevulinic acid were substantially elevated. ...Results of porphyrin metabolic studies of the patient's family showed normal …
Brain, chest, abdominal, and pelvic imaging studies were negative for occult malignant disease. Urinary excretions of porphobilino
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
Hessels J, Voortman G, van der Wagen A, van der Elzen C, Scheffer H, Zuijderhoudt FM. Hessels J, et al. J Inherit Metab Dis. 2004;27(1):19-27. doi: 10.1023/B:BOLI.0000016613.75677.05. J Inherit Metab Dis. 2004. PMID: 14970743 Review.
A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessively elevated levels of urinary delta-aminolevulinic acid, porphobilinogen and uroporphyrin. ...Mutation analysis revealed a no …
A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessiv …
12 results