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Quoted phrase not found in phrase index: "Hemochromatosis type 5"
Page 1
Hemochromatosis classification: update and recommendations by the BIOIRON Society.
Girelli D, Busti F, Brissot P, Cabantchik I, Muckenthaler MU, Porto G. Girelli D, et al. Blood. 2022 May 19;139(20):3018-3029. doi: 10.1182/blood.2021011338. Blood. 2022. PMID: 34601591 Free PMC article.
Hemochromatosis (HC) is a genetically heterogeneous disorder in which uncontrolled intestinal iron absorption may lead to progressive iron overload (IO) responsible for disabling and life-threatening complications such as arthritis, diabetes, heart failure, hepatic cirrhos …
Hemochromatosis (HC) is a genetically heterogeneous disorder in which uncontrolled intestinal iron absorption may lead to progressive …
Juvenile haemochromatosis.
Griffiths WJH, Besser M, Bowden DJ, Kelly DA. Griffiths WJH, et al. Lancet Child Adolesc Health. 2021 Jul;5(7):524-530. doi: 10.1016/S2352-4642(20)30392-8. Epub 2021 Apr 15. Lancet Child Adolesc Health. 2021. PMID: 33861982 Review.
MRI software techniques allow quantification of iron in these organs, and can therefore be used to monitor progress. Juvenile haemochromatosis is autosomal recessive and is generally associated with mutations in HJV (type 2A) or HAMP (type 2B). Mutations in T …
MRI software techniques allow quantification of iron in these organs, and can therefore be used to monitor progress. Juvenile haemochroma …
HFE-associated hereditary hemochromatosis.
Alexander J, Kowdley KV. Alexander J, et al. Genet Med. 2009 May;11(5):307-13. doi: 10.1097/GIM.0b013e31819d30f2. Genet Med. 2009. PMID: 19444013 Free article. Review.
In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalent, and HFE-associated hereditary hemochromatosis is the most common type of inherited iron overload disorder. ...
In populations of northern European descent, the p.C282Y mutation in the HFE gene is highly prevalent, and HFE-associated hereditary hemo …
Diagnostic morphology: biophysical indicators for iron-driven inflammatory diseases.
Pretorius E, Kell DB. Pretorius E, et al. Integr Biol (Camb). 2014 May;6(5):486-510. doi: 10.1039/c4ib00025k. Integr Biol (Camb). 2014. PMID: 24714688 Review.
Here we summarize recent microscopy-based observations to the effect that iron can have major effects on erythrocyte morphology, on erythrocyte deformability and on both fibrinogen polymerization and the consequent structure of the fibrin clots formed, each of which contributes s …
Here we summarize recent microscopy-based observations to the effect that iron can have major effects on erythrocyte morphology, on erythroc …
Clinical perspectives on hereditary hemochromatosis.
Ayonrinde OT, Milward EA, Chua AC, Trinder D, Olynyk JK. Ayonrinde OT, et al. Crit Rev Clin Lab Sci. 2008;45(5):451-84. doi: 10.1080/10408360802335716. Crit Rev Clin Lab Sci. 2008. PMID: 18712630 Review.
Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this di …
Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overl …
Hereditary hemochromatosis: data from a single center Copenhagen cohort.
Therkildsen R, Dahl EE, Schiødt FV. Therkildsen R, et al. Scand J Gastroenterol. 2022 Aug;57(8):972-977. doi: 10.1080/00365521.2022.2042591. Epub 2022 Mar 7. Scand J Gastroenterol. 2022. PMID: 35249441

OBJECTIVES: We aimed to describe a cohort of hereditary hemochromatosis (HH) patients from a single urban center in Copenhagen. ...Fifty-five HHH patients (39.0%) had ferritin >1000 ug/L versus 9 (14.5%) in the CHH group (p < .001). Age at debut did not differ

…
OBJECTIVES: We aimed to describe a cohort of hereditary hemochromatosis (HH) patients from a single urban center in Copenhagen. ...Fi …
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, Wu Z, Wu L, Li S, Wang X, Zhao X, Wang Q, Li M, Wang Y, You H, Huang J, Ou X, Jia J. Wu L, et al. Orphanet J Rare Dis. 2021 Sep 28;16(1):398. doi: 10.1186/s13023-021-02020-y. Orphanet J Rare Dis. 2021. PMID: 34583728 Free PMC article.
BACKGROUND: Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. ...R639Q(homo)) with difficulty in grouping due to combined damaging variants. Cases wit …
BACKGROUND: Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-r …
Porphyria cutanea tarda--when skin meets liver.
Frank J, Poblete-Gutiérrez P. Frank J, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955974 Review.
At least two different types of PCT are currently distinguished: an acquired variant, also referred to as sporadic or type I PCT, in which the enzymatic deficiency is limited to the liver; and an autosomal dominantly inherited form, also known as familial or type II …
At least two different types of PCT are currently distinguished: an acquired variant, also referred to as sporadic or type I PCT, in …
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.
Fregonese L, Stolk J. Fregonese L, et al. Orphanet J Rare Dis. 2008 Jun 19;3:16. doi: 10.1186/1750-1172-3-16. Orphanet J Rare Dis. 2008. PMID: 18565211 Free PMC article. Review.
Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and airflow obstruction early in adult life. ...Differential diagnoses should exclude bleeding disorders or jaundice, viral infection, hemochrom …
Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and air …
Hyperferritinemia and diagnosis of type 1 Gaucher disease.
Marchi G, Nascimbeni F, Motta I, Busti F, Carubbi F, Cappellini MD, Pietrangelo A, Corradini E, Piperno A, Girelli D. Marchi G, et al. Am J Hematol. 2020 May;95(5):570-576. doi: 10.1002/ajh.25752. Epub 2020 Feb 22. Am J Hematol. 2020. PMID: 32031266 Free article. No abstract available.
97 results