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(juvenile hemochromatosis)
145 results
  • Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review. [Review]
    Orphanet J Rare Dis 2019; 14(1):171Kong X, Xie L, … Chen X
  • Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomyopathy, hypogonadism, and diabetes. Hemojuvelin (HJV) is the causative gene of a rare subtype of HH worldwide. This study aims to systematically review the genotypic and phenotypic spectra o…
  • Variation in the repulsive guidance molecule family in human populations. [Journal Article]
    Physiol Rep 2019; 7(3):e13959Rotwein P
  • Repulsive guidance molecules, RGMA, RGMB, and RGMC, are related proteins discovered independently through different experimental paradigms. They are encoded by single copy genes in mammalian and other vertebrate genomes, and are ~50% identical in amino acid sequence. The importance of RGM actions in human physiology has not been realized, as most research has focused on non-human models, although…
  • Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy. [Journal Article]
    Rev Esp Patol 2019 Jan - Mar; 52(1):45-49Mantilla-Hernández JC, Amaya-Mujica J
  • Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein,…
  • Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? [Journal Article]
    Blood Cells Mol Dis 2019; 74:30-33Hamdi-Rozé H, Ben Ali Z, … Bardou-Jacquet E
  • Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome…
  • An unexpected cause of liver cirrhosis and cardiomyopathy in a young man. [Case Reports]
    Acta Clin Belg 2018; 73(5):393-397Pauwels R, Vandecasteele E, … De Pauw M
  • Introduction Juvenile hemochromatosis is a rare but severe form of hereditary hemochromatosis that typically presents early in life and can be fatal if left untreated. Case presentation We present the case of a 30-year-old man with a clear symptomatology of juvenile hemochromatosis, but in whom the diagnosis was initially mistaken for alcoholic liver disease because of known excessive use of alco…
  • Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox. [Case Reports]
    World J Clin Cases 2017; 5(10):381-383Lescano MA, Tavares LC, Santos PCJL
  • Juvenile hemochromatosis (JH) is a rare condition classified as an autosomal recessive disorder that leads to severe iron absorption. JH usually affects people under the age of 30 and presents symptoms such as chronic liver damage, hypogonadotropic hypogonadism, cardiac diseases and endocrine dysfunctions. The present case reports a 29-year-old Brazilian woman with JH condition due to HAMP mutati…
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