A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts

Internal Medicine

Volumn 55, Issue 18, 2016, Pages 2697-2701

  Yamakawa, Noriyuki ^a,b   Oe, Kengo ^a   Yukawa, Naoichiro ^a   Murakami, Kosaku ^a   Nakashima, Ran ^a   Imura, Yoshitaka ^a   Yoshifuji, Hajime ^a   Ohmura, Koichiro ^a   Miura, Yasuo ^c   Tomosugi, Naohisa ^d   Kawabata, Hiroshi ^a   Takaori Kondo, Akifumi ^a   Mimori, Tsuneyo ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KYOTO KATSURA HOSPITAL   (Japan)

^c KYOTO UNIVERSITY HOSPITAL   (Japan)

^d KANAZAWA MEDICAL UNIVERSITY   (Japan)

Author keywords

Ferroportin; Hereditary hemochromatosis type 4; Hereditary hyperferritinemia cataract syndrome; Juvenile cataracts

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; FERROPORTIN 1; GALLIUM; IRON; TRANSFERRIN; CATION TRANSPORT PROTEIN; METAL TRANSPORTING PROTEIN 1;

ADULT; ARTHRALGIA; ARTHRITIS; ARTICLE; CASE REPORT; CATARACT; COMPUTER ASSISTED TOMOGRAPHY; CONJUNCTIVA DISEASE; ECHOGRAPHY; FEVER; GENE MUTATION; GENETIC ANALYSIS; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; JAPAN; JUVENILE CATARACT; LIVER DYSFUNCTION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PIGMENTATION; RASH; SCINTIGRAPHY; TENOSYNOVITIS; DEFICIENCY; GENETICS; MUTATION;

ADULT; CATARACT; CATION TRANSPORT PROTEINS; HEMOCHROMATOSIS; HUMANS; JAPAN; MALE; MUTATION; PHENOTYPE;

EID: 84987849965     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.55.6565     Document Type: Article

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