Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation

1999 ◽  
Vol 105 (1-2) ◽  
pp. 120-126 ◽  
Author(s):  
H. Ida ◽  
O.M. Rennert ◽  
K. Iwasawa ◽  
M. Kobayashi ◽  
Y. Eto
1999 ◽  
Vol 105 (1-2) ◽  
pp. 120-126 ◽  
Author(s):  
H. Ida ◽  
O.M. Rennert ◽  
K. Iwasawa ◽  
M. Kobayashi ◽  
Y. Eto

2017 ◽  
Vol 120 (1-2) ◽  
pp. S17
Author(s):  
Magy Abdelwahab ◽  
Aya Fattouh ◽  
Hala Hamza ◽  
Doaa Abdelaziz

1996 ◽  
Vol 38 (3) ◽  
pp. 233-236 ◽  
Author(s):  
HIROYUKI IDA ◽  
OWEN M RENNERT ◽  
TAKERU ITO ◽  
KIHEI MAEKAWA ◽  
YOSHIKATSU ETO

2011 ◽  
Vol 68 (12) ◽  
pp. 1071-1074 ◽  
Author(s):  
Maja Djordjevic ◽  
Predrag Minic ◽  
Adrijan Sarajlija ◽  
Slavisa Djuricic ◽  
Dragomir Djokic ◽  
...  

Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD. Case report. We reported sisters with pulmonary involvement in GD type III. Respiratory failure with fatal outcome at 3 years and 4 months of age occurred in K.K. due to pulmonary complications of GD. At the time enzyme replacement therapy (ERT) was not available in Serbia. J.K., homozygous for L444P mutation, developed asymptomatic pulmonary involvement at the age of 6 after 2.5 years of ERT. Pulmonary disease in J.K. was verified by high resolution computerized tomography, cytology of bronchoalveolar lavage fluid and histopathology of transbronchial lung biopsy. Conclusion. Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT.


2006 ◽  
Vol 95 (3) ◽  
pp. 312-317 ◽  
Author(s):  
Anders Erikson ◽  
Håkan Forsberg ◽  
Magnus Nilsson ◽  
Marianne Åström ◽  
Jan-Eric Månsson

VASA ◽  
2015 ◽  
Vol 44 (5) ◽  
pp. 333-340 ◽  
Author(s):  
Christian Werner ◽  
Ulrich Laufs

Abstract. Summary: The term “LDL hypothesis” is frequently used to describe the association of low-density lipoprotein cholesterol (LDL-cholesterol, LDL-C) and cardiovascular (CV) events. Recent data from genetic studies prove a causal relation between serum LDL-C and CV events. These data are in agreement with mechanistic molecular studies and epidemiology. New randomised clinical trial data show that LDL-C lowering with statins and a non-statin drug, ezetimibe, reduces CV events. We therefore believe that the “LDL-hypothesis” has been proven; the term appears to be outdated and should be replaced by “LDL causality”.


2009 ◽  
Vol 42 (05) ◽  
Author(s):  
H Konnerth ◽  
I Giegling ◽  
AM Hartmann ◽  
J Genius ◽  
A Ruppert ◽  
...  

1969 ◽  
Vol 08 (01) ◽  
pp. 07-11 ◽  
Author(s):  
H. B. Newcombe

Methods are described for deriving personal and family histories of birth, marriage, procreation, ill health and death, for large populations, from existing civil registrations of vital events and the routine records of ill health. Computers have been used to group together and »link« the separately derived records pertaining to successive events in the lives of the same individuals and families, rapidly and on a large scale. Most of the records employed are already available as machine readable punchcards and magnetic tapes, for statistical and administrative purposes, and only minor modifications have been made to the manner in which these are produced.As applied to the population of the Canadian province of British Columbia (currently about 2 million people) these methods have already yielded substantial information on the risks of disease: a) in the population, b) in relation to various parental characteristics, and c) as correlated with previous occurrences in the family histories.


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