Additional file 2: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

Amaral, O.
Marcão, A.
Sá Miranda, M.
Desnick, R.J.
Grace, M.E.

February 2000

Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficien...

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

Lepe-Balsalobre, Esperanza
Santotoribio, José D.
Nuñez-Vazquez, Ramiro
García-Morillo, Salvador
Jiménez-Arriscado, Pilar
Hernández-Arévalo, Paula
Delarosa-Rodríguez, Rocío
Guerrero, Juan Miguel
Macher, Hada C.

April 2021

[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...

Additional file 2: of Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

MarĂa-JesĂşs Sobrido (6249302)
Peter Bauer (524851)
Tom Koning (6249296)
Thomas Klopstock (160225)
Yann Nadjar (136276)
Marc Patterson (5636096)
Matthis Synofzik (276961)
Chris Hendriksz (6249299)

January 2019

Summary of published screening studies based primarily on biomarker analysis. (DOCX 29 kb

Additional file 4: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Additional file 3: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...

Additional file 3: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

Population screening of the c.1448T>C (Leu444Pro) variant. The screening identified two carriers of ...

Additional file 1: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

List of primers used for GBA gene sequencing. The exons and the exon-intron boundaries of the GBA ge...

Additional file 2: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

In silico analysis of the functional effect of the variants identified in the adult patients with ty...

Additional file 4: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth
Riddhi Bhavsar
Mehul Mistri
Dhairya Pancholi
Ashish Bavdekar
Ashwin Dalal
Prajnya Ranganath
Katta M Girisha
Anju Shukla
Shubha Phadke
Ratna Puri
Inusha Panigrahi
Anupriya Kaur
Mamta Muranjan
Manisha Goyal
Radha Ramadevi
Raju Shah
Sheela Nampoothiri
Sumita Danda
Chaitanya Datar
Seema Kapoor
Seema Bhatwadekar
Frenny Sheth

February 2019

Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due t...

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth
Dhairya Pancholi
Mehul Mistri
Payal Nath
Chitra Ankleshwaria
Riddhi Bhavsar
Ratna Puri
Shubha Phadke
Frenny Sheth

October 2018

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil

Tirelli, Kristiane Michelin
Wajner, Alessandro
Souza, Fernanda Timm Seabra
Mello, Alexandre Silva de
Burin, Maira Graeff
Pereira, Maria Luiza Saraiva
Pires, Ricardo Flores
Giugliani, Roberto
Coelho, Janice Carneiro

January 2005

Gaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosida...

Mutation Analysis of Gaucher Disease Patients in Taiwan: High Prevalence of the Recncii and L444p Mutations

許欽木
HSU, CHIN-MOO

December 2008

Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree o...

Gaucher disease among Chinese patients:review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

Choy, Francis Y M
Zhang, Weimin
Shi, Hui-Ping
Zay, Agnes
Campbell, Tessa
Tang, Nelson
Ferreira, Patrick

January 2007

Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency ...

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations

Lei Wan

[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

Amaral, O.
Marcão, A.
Sá Miranda, M.
Desnick, R.J.
Grace, M.E.

February 2000

Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficien...

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

Lepe-Balsalobre, Esperanza
Santotoribio, José D.
Nuñez-Vazquez, Ramiro
García-Morillo, Salvador
Jiménez-Arriscado, Pilar
Hernández-Arévalo, Paula
Delarosa-Rodríguez, Rocío
Guerrero, Juan Miguel
Macher, Hada C.

April 2021

[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...

Additional file 2: of Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

MarĂa-JesĂşs Sobrido (6249302)
Peter Bauer (524851)
Tom Koning (6249296)
Thomas Klopstock (160225)
Yann Nadjar (136276)
Marc Patterson (5636096)
Matthis Synofzik (276961)
Chris Hendriksz (6249299)

January 2019

Summary of published screening studies based primarily on biomarker analysis. (DOCX 29 kb

Additional file 4: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Additional file 3: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...

Additional file 3: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

Population screening of the c.1448T>C (Leu444Pro) variant. The screening identified two carriers of ...

Additional file 1: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

List of primers used for GBA gene sequencing. The exons and the exon-intron boundaries of the GBA ge...

Additional file 2: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

In silico analysis of the functional effect of the variants identified in the adult patients with ty...

Additional file 4: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth
Riddhi Bhavsar
Mehul Mistri
Dhairya Pancholi
Ashish Bavdekar
Ashwin Dalal
Prajnya Ranganath
Katta M Girisha
Anju Shukla
Shubha Phadke
Ratna Puri
Inusha Panigrahi
Anupriya Kaur
Mamta Muranjan
Manisha Goyal
Radha Ramadevi
Raju Shah
Sheela Nampoothiri
Sumita Danda
Chaitanya Datar
Seema Kapoor
Seema Bhatwadekar
Frenny Sheth

February 2019

Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due t...

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth
Dhairya Pancholi
Mehul Mistri
Payal Nath
Chitra Ankleshwaria
Riddhi Bhavsar
Ratna Puri
Shubha Phadke
Frenny Sheth

October 2018

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil

Tirelli, Kristiane Michelin
Wajner, Alessandro
Souza, Fernanda Timm Seabra
Mello, Alexandre Silva de
Burin, Maira Graeff
Pereira, Maria Luiza Saraiva
Pires, Ricardo Flores
Giugliani, Roberto
Coelho, Janice Carneiro

January 2005

Gaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosida...

Mutation Analysis of Gaucher Disease Patients in Taiwan: High Prevalence of the Recncii and L444p Mutations

許欽木
HSU, CHIN-MOO

December 2008

Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree o...

Gaucher disease among Chinese patients:review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

Choy, Francis Y M
Zhang, Weimin
Shi, Hui-Ping
Zay, Agnes
Campbell, Tessa
Tang, Nelson
Ferreira, Patrick

January 2007

Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency ...

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations

Lei Wan

[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

Amaral, O.
Marcão, A.
Sá Miranda, M.
Desnick, R.J.
Grace, M.E.

February 2000

Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficien...

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

Lepe-Balsalobre, Esperanza
Santotoribio, José D.
Nuñez-Vazquez, Ramiro
García-Morillo, Salvador
Jiménez-Arriscado, Pilar
Hernández-Arévalo, Paula
Delarosa-Rodríguez, Rocío
Guerrero, Juan Miguel
Macher, Hada C.

April 2021

[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...

Additional file 2: of Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

MarĂa-JesĂşs Sobrido (6249302)
Peter Bauer (524851)
Tom Koning (6249296)
Thomas Klopstock (160225)
Yann Nadjar (136276)
Marc Patterson (5636096)
Matthis Synofzik (276961)
Chris Hendriksz (6249299)

January 2019

Summary of published screening studies based primarily on biomarker analysis. (DOCX 29 kb

Additional file 2: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Abstract

Extracted data

Additional file 2: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Abstract

Extracted data

Related items

Related items