Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

Clinical and molecular features of our pompe patients: Single-center experience [Pompe tanısı alan hastalarımızın klinik ve moleküler Özellikleri: Tek merkez deneyimi]

Köse M.
Köse E.
Kağnıcı M.
Ünalp A.
Yılmaz Ü.
Yılmaz M.M.
Yıldırım E.S.

January 2020

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...

Pompe disease: clinical perspectives

Cabello JF
Marsden D

December 2016

Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...

Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey

Hagemans, Marloes

June 2006

textabstractPompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid a...

Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

Capelle, C.I. (Carine) van
Meijden, J.C. (Chris) van der
Hout, J.M.P. (Johanna) van den
Jaeken, J.
Baethmann, M.
Voit, T.
Kroos, M.A. (Marian)
Derks, T.G.J. (Terry G J)
Rubio-Gozalbo, M.E. (Estela)
Willemsen, M.A. (Michél)
Lachmann, R. (Robin)
Mengel, E.
Michelakakis, H. (Helen)
Jongste, J.C. (Johan) de
Reuser, A.J.J. (Arnold)
Ploeg, A.T. (Ans) van der

May 2016

Background: As little information is available on children with non-classic presentations of Pompe d...

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

van Capelle, C. I.
van der Meijden, J. C.
van den Hout, J. M. P.
Jaeken, J.
Baethmann, M.
Voit, T.
Kroos, M. A.
Derks, T. G. J.
Rubio-Gozalbo, M. E.
Willemsen, M. A.
Lachmann, R. H.
Mengel, E.
Michelakakis, H.
de Jongste, J. C.
Reuser, A. J. J.
van der Ploeg, A. T.

May 2016

Background: As little information is available on children with non-classic presentations of Pompe d...

Childhood Pompe disease:clinical spectrum and genotype in 31 patients

van Capelle, C I
van der Meijden, J C
van den Hout, J M P
Jaeken, J
Baethmann, M
Voit, T
Kroos, M A
Derks, T G J
Rubio-Gozalbo, M E
Willemsen, M A
Lachmann, R H
Mengel, E
Michelakakis, H
de Jongste, J C
Reuser, A J J
van der Ploeg, A T

May 2016

Background: As little information is available on children with non-classic presentations of Pompe d...

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease

C. Papadopoulos
G.K. Papadimas
H. Michelakakis
E. Kararizou
P. Manta

January 2014

Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal en...

Clinical Characteristics and Genotypes in the ADVANCE Baseline Data Set, a Comprehensive Cohort of US Children and Adolescents with Pompe Disease

Kishnani, Priya S.
Gibson, James B.
Gambello, Michael J.
Hillman, Richard
Stockton, David W.
Kronn, David
Leslie, Nancy D.
Pompe ADVANCE Study Consortium

November 2019

PURPOSE: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of ...

Pompe disease clinical and laboratory diagnostic features

N.O. Pichkur
N.V. Olkhovych
T.P. Ivanova
N.V. Samonenko

October 2017

Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its m...

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Kishnani, Priya S
Gibson, James B
Gambello, Michael J
Hillman, Richard
Stockton, David W
Kronn, David
Leslie, Nancy D
Pena, Loren DM
Tanpaiboon, Pranoot
Day, John W
Wang, Raymond Y
Goldstein, Jennifer L
An Haack, Kristina
Sparks, Susan E
Zhao, Yang
Hahn, Si Houn

November 2019

PurposeTo characterize clinical characteristics and genotypes of patients in the ADVANCE study of 40...

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

TÜRKDOĞAN, DİLŞAD
ÜNVER, OLCAY

January 2016

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children w...

Pompe disease: A case report

Abdullah Çim
Salih Coşkun
Ahmet Yılmaz
Hüseyin Onay

December 2015

Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children...

Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience

Yildirim, Eser Sozmen
Kose, Melis
Kose, Engin
Kagnici, Mehtap
Unalp, Aycan
Yilmaz, Unsal
Yilmaz, Murat Muhtar
Mese, Timur
Edizer, Selvinaz
Gursoy, Semra
Onay, Huseyin

March 2020

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...

Retrospective, Single Center Study of Clinical, Paraclinical and Natural Course of Infantile-Onset Pompe Disease

Noormohammad Noori
Ghasem Miri-Aliabad
Ali Khajeh

January 2015

Background: Infantile-onset Pompe disease is a rare genetic and lethal disorder which is caused by t...

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Herzog, Andre
Hartung, Ralf
Reuser, Arnold
Hermanns, Thomas
Runz, Heiko
Karabul, N.
Gökce, Seyfullah
Pohlenz, Joachim
Kampmann, Christoph
Lampe, Christina
Beck, Markus
Mengel, E.

June 2012

textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosid...

Clinical and molecular features of our pompe patients: Single-center experience [Pompe tanısı alan hastalarımızın klinik ve moleküler Özellikleri: Tek merkez deneyimi]

Köse M.
Köse E.
Kağnıcı M.
Ünalp A.
Yılmaz Ü.
Yılmaz M.M.
Yıldırım E.S.

January 2020

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...

Pompe disease: clinical perspectives

Cabello JF
Marsden D

December 2016

Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...

Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey

Hagemans, Marloes

June 2006

textabstractPompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid a...

Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

Capelle, C.I. (Carine) van
Meijden, J.C. (Chris) van der
Hout, J.M.P. (Johanna) van den
Jaeken, J.
Baethmann, M.
Voit, T.
Kroos, M.A. (Marian)
Derks, T.G.J. (Terry G J)
Rubio-Gozalbo, M.E. (Estela)
Willemsen, M.A. (Michél)
Lachmann, R. (Robin)
Mengel, E.
Michelakakis, H. (Helen)
Jongste, J.C. (Johan) de
Reuser, A.J.J. (Arnold)
Ploeg, A.T. (Ans) van der

May 2016

Background: As little information is available on children with non-classic presentations of Pompe d...

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

van Capelle, C. I.
van der Meijden, J. C.
van den Hout, J. M. P.
Jaeken, J.
Baethmann, M.
Voit, T.
Kroos, M. A.
Derks, T. G. J.
Rubio-Gozalbo, M. E.
Willemsen, M. A.
Lachmann, R. H.
Mengel, E.
Michelakakis, H.
de Jongste, J. C.
Reuser, A. J. J.
van der Ploeg, A. T.

May 2016

Background: As little information is available on children with non-classic presentations of Pompe d...

Childhood Pompe disease:clinical spectrum and genotype in 31 patients

van Capelle, C I
van der Meijden, J C
van den Hout, J M P
Jaeken, J
Baethmann, M
Voit, T
Kroos, M A
Derks, T G J
Rubio-Gozalbo, M E
Willemsen, M A
Lachmann, R H
Mengel, E
Michelakakis, H
de Jongste, J C
Reuser, A J J
van der Ploeg, A T

May 2016

Background: As little information is available on children with non-classic presentations of Pompe d...

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease

C. Papadopoulos
G.K. Papadimas
H. Michelakakis
E. Kararizou
P. Manta

January 2014

Background/aims: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal en...

Clinical Characteristics and Genotypes in the ADVANCE Baseline Data Set, a Comprehensive Cohort of US Children and Adolescents with Pompe Disease

Kishnani, Priya S.
Gibson, James B.
Gambello, Michael J.
Hillman, Richard
Stockton, David W.
Kronn, David
Leslie, Nancy D.
Pompe ADVANCE Study Consortium

November 2019

PURPOSE: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of ...

Pompe disease clinical and laboratory diagnostic features

N.O. Pichkur
N.V. Olkhovych
T.P. Ivanova
N.V. Samonenko

October 2017

Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its m...

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Kishnani, Priya S
Gibson, James B
Gambello, Michael J
Hillman, Richard
Stockton, David W
Kronn, David
Leslie, Nancy D
Pena, Loren DM
Tanpaiboon, Pranoot
Day, John W
Wang, Raymond Y
Goldstein, Jennifer L
An Haack, Kristina
Sparks, Susan E
Zhao, Yang
Hahn, Si Houn

November 2019

PurposeTo characterize clinical characteristics and genotypes of patients in the ADVANCE study of 40...

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

TÜRKDOĞAN, DİLŞAD
ÜNVER, OLCAY

January 2016

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children w...

Pompe disease: A case report

Abdullah Çim
Salih Coşkun
Ahmet Yılmaz
Hüseyin Onay

December 2015

Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children...

Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience

Yildirim, Eser Sozmen
Kose, Melis
Kose, Engin
Kagnici, Mehtap
Unalp, Aycan
Yilmaz, Unsal
Yilmaz, Murat Muhtar
Mese, Timur
Edizer, Selvinaz
Gursoy, Semra
Onay, Huseyin

March 2020

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...

Retrospective, Single Center Study of Clinical, Paraclinical and Natural Course of Infantile-Onset Pompe Disease

Noormohammad Noori
Ghasem Miri-Aliabad
Ali Khajeh

January 2015

Background: Infantile-onset Pompe disease is a rare genetic and lethal disorder which is caused by t...

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Herzog, Andre
Hartung, Ralf
Reuser, Arnold
Hermanns, Thomas
Runz, Heiko
Karabul, N.
Gökce, Seyfullah
Pohlenz, Joachim
Kampmann, Christoph
Lampe, Christina
Beck, Markus
Mengel, E.

June 2012

textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosid...

Clinical and molecular features of our pompe patients: Single-center experience [Pompe tanısı alan hastalarımızın klinik ve moleküler Özellikleri: Tek merkez deneyimi]

Köse M.
Köse E.
Kağnıcı M.
Ünalp A.
Yılmaz Ü.
Yılmaz M.M.
Yıldırım E.S.

January 2020

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...

Pompe disease: clinical perspectives

Cabello JF
Marsden D

December 2016

Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...

Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey

Hagemans, Marloes

June 2006

textabstractPompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid a...

Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

Abstract

Extracted data

Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

Abstract

Extracted data

Related items

Related items