Reference Library

Systemic Inflammation in Acute Intermittent Porphyria: a Case-Control Study

CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Volume 187, Issue 3, Storjord E, Dahl JA, Landsem A, Fure H, Ludviksen JK, Goldbeck-Wood S, Karlsen BO, Berg KS, Mollnes TE, Nielsen EW, Brekke OL

DOI: 10.1111/cei.12899

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Molecular and Biochemical Studies of Acute Intermittent Porphyria in 196 Patients and Their Families 

CLINICAL CHEMISTRY

Volume 48, Issue 11, Kauppinen R, Fraunberg M

DOI: 10.2147/TACG.S48605 

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An Update of Clinical Management of Acute Intermittent Porphyria 

THE APPLICATION OF CLINICAL GENETICS

Volume 8, Issue 18, Pischik E, Kauppinen R

DOI: 10.2147/TACG.S48605

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The Porphyrias: Advances in Diagnosis and Treatment 

BLOOD

Volume 120, Issue 23, Balwani M, Desnick RJ

DOI: 10.1182/blood-2012-05-423186

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Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome and Lateralized Periodic Discharges Plus Fast Activity on EEG 

EPILEPSY & BEHAVIOR CASE REPORTS

Volume 6, Issue 17, Silveira CD, Bashir M, Daniel J, Lucenan MH, Bonpietro F

DOI: 10.1016/j.ebcr.2016.08.004

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Adrenal Hormonal Imbalance in Acute Intermittent Porphyria Patients: Results of a Case-Control Study 

ORPHANET JOURNAL OF RARE DISEASES

Volume 9, Issue 54, Pozo OJ, Marcos J, Fabregat A, Ventura R, Casals G, Aguilera P, Segura J, To-Figueras J

DOI: 10.1186/1750-1172-9-54

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A Twenty-two-year-old Woman with Severe Headaches, Vomiting, and Tonic-Clonic Seizures

ARTHRITIS CARE & RESEARCH

Volume 63, Issue 1, Dahlgren M, Khosroshahi A, Stone JH

DOI: 10.1002/acr.20249

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Screening for Hepatocellular Carcinoma in Acute Intermittent Porphyria: a Fifteen-year Follow-up in Northern Sweden

JOURNAL OF INTERNAL MEDICINE

Volume 269, Issue 5, Innala E, Andersson C

DOI: 10.1111/j.1365-2796.2010.02335.x

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Systemic Lupus Erythematosus and Acute Intermittent Porphyria: Coincidence or Association?

ARTHRITIS & RHEUMATISM

Volume 25, Issue 9, Rosemarin JI, Nigro EJ, Levere RD, Mascarenhas BR

DOI: 10.1002/art.1780250917

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Molecular Study of the Hydroxymethlybilane Synthase Gene (HMBS) Among Polish Patients with Acute Intermittent Porphyria 

HUMAN MUTATION

Volume 19, Issue 3, Gregor A, Schneider-Yin X, Szlendak U, Wettstein A, Lipniacka A, Rüfenacht UB, Minder EI

DOI: 10.1002/humu.9020

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Novel Molecular Defects of the Delta-Aminolevulinate Dehydratase Gene in a Patient with Inherited Acute Hepatic Porphyria 

HEPATOLOGY

Volume 31, Issue 3, Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S

DOI: ​10.1002/hep.510310321

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A Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature 

AMERICAN JOURNAL OF HEMATOLOGY

Volume 6, Issue 1, Baumgartnera A, Quesenberry PJ

 

DOI: 10.14740/jh315w