Disease severity in sibling pairs with type 1 Gaucher disease (Q82398101)

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16 January 2020

title

Disease severity in sibling pairs with type 1 Gaucher disease (English)

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16 January 2020

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3

Gheona Altarescu

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16 January 2020

5

Irith Hadas-Halpern

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16 January 2020

1

Deborah Elstein

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16 January 2020

10

Ari Zimran

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16 January 2020

4

Aya Abrahamov

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16 January 2020

author name string

Ayelet Gellman

2

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16 January 2020

Mici Phillips

6

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16 January 2020

Maya Margalit

7

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Ehud Lebel

8

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Menachem Itzchaki

9

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publication date

5 January 2010

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Journal of Inherited Metabolic Disease

16 January 2020

published in

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volume

33

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issue

1

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page(s)

79-83

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Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

16 January 2020

cites work

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12 December 2020

Twin pairs showing discordance of phenotype in adult Gaucher's disease

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12 December 2020

Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity

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12 December 2020

Gaucher's disease: genetic counselling and population screening.

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12 December 2020

Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease

1 reference

12 December 2020

The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).

1 reference

12 December 2020

Children with type I Gaucher disease: growing into adulthood with and without enzyme therapy

1 reference

12 December 2020

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

1 reference

12 December 2020

Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment

1 reference

12 December 2020

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases

1 reference

12 December 2020

Gaucher disease: variability in phenotype among siblings

1 reference

12 December 2020