ライフサイエンスコーパス: haemochromatosis

1 us is a recognized consequence of hereditary haemochromatosis.

2 d symptoms that would suggest a diagnosis of haemochromatosis.

3 ent with clinical observations of hereditary haemochromatosis.

4 han 1% of homozygotes develop frank clinical haemochromatosis.

5 lain how mutations in HFE lead to hereditary haemochromatosis.

6 ated in the iron-overload disease hereditary haemochromatosis.

7 ne of which (Cys282Tyr) is believed to cause haemochromatosis.

8 not all homozygotes present clinically with haemochromatosis.

9 gene is mutated in patients with hereditary haemochromatosis.

10 alloimmune mechanism for recurrent neonatal haemochromatosis.

11 evidence of liver involvement with neonatal haemochromatosis: 11 had higher than normal concentratio

12 The application of molecular genetics to haemochromatosis and experimental mutagenesis in animals

13 the development of iron overload typical of haemochromatosis and thalassaemia intermedia.

14 atory data and data on signs and symptoms of haemochromatosis as elicited by questionnaire.

15 disorders of systemic iron overload, such as haemochromatosis, brain iron is not increased, which sug

16 creatitis, pancreatic ductal adenocarcinoma, haemochromatosis, cystic fibrosis, and previous pancreat

17 al ions in humans is a feature of hereditary haemochromatosis, disorders of metal-ion deficiency, and

18 Hereditary haemochromatosis due to mutations in the HFE gene leads

19 ingle reaction parameter that mimics a human haemochromatosis gene (HFE) mutation.

20 After identification of the hereditary haemochromatosis gene HFE, and receipt of confirmation t

21 The role of haemochromatosis genes in determining susceptibility to

22 Inheritance of one or more haemochromatosis genes is an important susceptibility fa

23 e normal age distribution of people with the haemochromatosis genotype, and the lack of symptoms in p

24 osatellite alleles that define the ancestral haemochromatosis haplotype had previously been determine

25 h markers of the HLA-A3-containing ancestral haemochromatosis haplotype.

26 identified as highly expressed in hereditary haemochromatosis HCC (HH-HCC) were validated using quant

27 n of HFE, the principal determinant of adult haemochromatosis (HFE1; OMIM 235200) and TfR2, recently

28 the promise of candidate genes for juvenile haemochromatosis (HFE2; OMIM 602390) and neonatal haemoc

29 Haemochromatosis (HH) is a clinically and genetically he

30 er and 7 HCC from 3 patients with hereditary haemochromatosis (HH) undergoing surgery.

31 Hereditary haemochromatosis (HH), which affects some 1 in 400 and h

32 ations of which are the most common cause of haemochromatosis in the European population.

33 The most common symptoms of haemochromatosis, including poor general health, diabete

34 Neonatal haemochromatosis is a rare disease of gestation that res

35 Hereditary haemochromatosis is an iron overloading disorder caused

36 , indicate that the penetrance of hereditary haemochromatosis is much lower than generally thought.

37 A role of this gene in haemochromatosis is supported by the frequency and natur

38 Overall efficacy of population screening for haemochromatosis is undermined by these observations.

39 recently been reported that causes juvenile haemochromatosis (JH) in the homozygous state.

40 load and deficiency disorders (i.e. anaemia, haemochromatosis, Menkes disease, Wilson's disease), and

41 changing the severity of recurrent neonatal haemochromatosis of administering during pregnancy high-

42 chromatosis (HFE2; OMIM 602390) and neonatal haemochromatosis (OMIM 231100) provide the foundation fo

43 the human X chromosome, the human hereditary haemochromatosis region, and the BRCA1 pseudogene.

44 e debate on whether population screening for haemochromatosis should be undertaken or whether alterna

45 appears to have modified recurrent neonatal haemochromatosis so that it was not lethal to the fetus

46 Screening programmes for haemochromatosis that include follow-up identification o

47 arnt from the study of the rare instances of haemochromatosis that involve mutations in newly-identif

48 A disease state simulation of haemochromatosis was created by altering a single reacti

49 ecent pregnancy ended in documented neonatal haemochromatosis were treated with IVIG, 1 g/kg bodyweig