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A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease

100%

Yassin N. A., Muwakkit S. A., Ibrahim A. O., Kayim I. M., Habbal M.-Z. M., Chamseddine N. M., Musallam K. M., Shamseddine A. I.

Journal of Applied Genetics

2008

vol. 49

issue 4

421-424

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more than 200 gene mutations have been identified. We herein report a Lebanese boy born with a novel combined mutation L371V/Rec-NciI, who presented with moderate-severe type 1 GD. An overview of the clinical and biomarker improvement following enzyme replacement therapy with imiglucerase is described in a follow-up of 30 months. Imiglucerase seems to be efficacious in decreasing the severity of the disease associated with this mutation. However, a high dose may be required to achieve optimal growth, platelet count, and hemoglobin level.

Regeneration of Oxalis triangularis from hairy roots and the influence of glutathione on anthocyanin production

75%

Wielanek M., Urbanek H., Dobras M.

Biotechnologia

2004

issue 2

260-266

The Oxalis triangularis transformed plants were regenerated from hairy roots induced by A. rhizogenes LBA 9402. In vitro shoot proliferation of the transformed roots-regenerated plants was 65% higher by than that of the non-transformed ones. In vivo the hairy root syndrome was observed for the transformed roots-regenerated plants. Anthocyanin content in the leaves of non-transformed plants was about 40% higher than in the transformed roots-regenerated ones. In the non-transformed plants, GSH (1,5 mM) enhanced anthocyanin production by 30% at the most, while in the transformed roots-regenerated plants the maximal increase in its production was found on the 2nd and 9th days after the treatment, it reached 230-320% and 750-600% of control, respectively.

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1 Biotechnologia

1 Journal of Applied Genetics

1 2008

1 2004

1 Chamseddine N. M.

1 Dobras M.

1 Habbal M.-Z. M.

1 Ibrahim A. O.

1 Kayim I. M.

1 Musallam K. M.

1 Muwakkit S. A.

1 Shamseddine A. I.

1 Urbanek H.

1 Wielanek M.

1 Yassin N. A.

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A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease

Regeneration of Oxalis triangularis from hairy roots and the influence of glutathione on anthocyanin production