User profiles for A Gaucher
Anne GaucherUniversité de Versailles St Quentin Verified email at uvsq.fr Cited by 1487 |
Gaucher disease
P Guggenbuhl, B Grosbois, G Chalès - Joint Bone Spine, 2008 - Elsevier
Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency
of the lysosomal enzyme β-glucocerebrosidase. The enzyme substrate, glucocerebroside, …
of the lysosomal enzyme β-glucocerebrosidase. The enzyme substrate, glucocerebroside, …
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
J Charrow, JA Esplin, TJ Gribble… - Archives of internal …, 1998 - jamanetwork.com
… Gaucher disease in the United States and serve as the US Regional Coordinators for the
International Collaborative Gaucher … complications of type I Gaucher disease, depending on …
International Collaborative Gaucher … complications of type I Gaucher disease, depending on …
[HTML][HTML] A review of Gaucher disease pathophysiology, clinical presentation and treatments
J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
[HTML][HTML] Gaucher disease
GM Pastores, DA Hughes - 2018 - europepmc.org
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal
disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) …
disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) …
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Two-dimensional nanosheets produced by liquid exfoliation of layered materials
If they could be easily exfoliated, layered materials would become a diverse source of two-dimensional
crystals whose properties would be useful in applications ranging from …
crystals whose properties would be useful in applications ranging from …
Gaucher disease: review of the literature
M Chen, J Wang - Archives of pathology & laboratory …, 2008 - meridian.allenpress.com
… of Gaucher disease, the most common lysosomal storage disease. Gaucher disease is a …
is the mainstay of treatment for Gaucher disease, which became the first successfully managed …
is the mainstay of treatment for Gaucher disease, which became the first successfully managed …
Gaucher disease
A Nagral - Journal of clinical and experimental hepatology, 2014 - Elsevier
… It should be considered in any child or adult with an unexplained splenohepatomegaly
and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-…
and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-…
[HTML][HTML] Clinical manifestations and management of Gaucher disease
S Linari, G Castaman - Clinical Cases in Mineral and Bone …, 2015 - ncbi.nlm.nih.gov
… Massive infiltration by Gaucher cells alone cannot … in Gaucher patients and is produced in
Gaucher cells. The plasma concentration strongly correlates with the accumulation of Gaucher …
Gaucher cells. The plasma concentration strongly correlates with the accumulation of Gaucher …
Gaucher disease: Progress and ongoing challenges
PK Mistry, G Lopez, R Schiffmann, NW Barton… - Molecular genetics and …, 2017 - Elsevier
… This is particularly true in the case of Gaucher disease (GD) … developments made in Gaucher
disease research over the … in the field of Gaucher disease that merit increased attention …
disease research over the … in the field of Gaucher disease that merit increased attention …
[HTML][HTML] Fluorescein derivatives as fluorescent probes for pH monitoring along recent biological applications
F Le Guern, V Mussard, A Gaucher, M Rottman… - International Journal of …, 2020 - mdpi.com
Potential of hydrogen (pH) is one of the most relevant parameters characterizing aqueous
solutions. In biology, pH is intrinsically linked to cellular life since all metabolic pathways are …
solutions. In biology, pH is intrinsically linked to cellular life since all metabolic pathways are …