Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, L.C.
Rust, S.
Scherpenzeel, M. van
Ng, B.G.
Losfeld, M.E.
Timal, S.
Raymond, K.
He, P.
Ichikawa, M.
Veltman, J.A.
Huijben, K.
Shin, Y.S.
Sharma, V.
Adamowicz, M.
Lammens, M.
Reunert, J.
Witten, A.
Schrapers, E.
Matthijs, G.
Jaeken, J.
Rymen, D.
Stojkovic, T.
Laforet, P.
Petit, F.
Aumaitre, O.
Czarnowska, E.
Piraud, M.
Podskarbi, T.
Stanley, C.A.
Matalon, R.
Burda, P.
Seyyedi, S.
Debus, V.
Socha, P.
Sykut-Cegielska, J.
Spronsen, F. van
Meirleir, L. de
Vajro, P.
DeClue, T.
Ficicioglu, C.
Wada, Y.
Wevers, R.A.
Vanderschaeghe, D.
Callewaert, N.
Fingerhut, R.
Schaftingen, E. van
Freeze, H.H.
Morava, E.
Lefeber, D.J.
Marquardt, T.

January 2014

Contains fulltext : 137499.pdf (publisher's version ) (Open Access)BACKGROUND: Con...

Insight into "Consensus recommendations for diagnosis and treatment of glycogen storage disease typeⅡ"

Hong-zhi GUAN
Li-ying CUI

May 2014

Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by def...

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1—Biology and Deficiency Syndrome

Romana Vulturar
Adina Chiș
Sebastian Pintilie
Ilinca Maria Farcaș
Alina Botezatu
Cristian Cezar Login
Adela-Viviana Sitar-Taut
Olga Hilda Orasan
Adina Stan
Cecilia Lazea
Camelia Al-Khzouz
Monica Mager
Mihaela Adela Vințan
Simona Manole
Laura Damian

May 2022

Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucos...

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Klepper, J
Akman, C
Armeno, M
Auvin, S
Cervenka, M
Cross, HJ
De Giorgis, V
Della Marina, A
Engelstad, K
Heussinger, N
Kossoff, EH
Leen, WG
Leiendecker, B
Monani, UR
Oguni, H
Neal, E
Pascual, JM
Pearson, TS
Pons, R
Scheffer, IE
Veggiotti, P
Willemsen, M
Zuberi, SM
De Vivo, DC

September 2020

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose tr...

GLUT1 deficiency syndrome 2013: Current state of the art

De Giorgis, Valentina
Veggiotti, Pierangelo

December 2013

AbstractGlucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose t...

GLUT1 deficiency syndrome 2013: Current state of the art

Valentina De Giorgis
VEGGIOTTI, PIERANGELO

January 2013

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport...

GLUT1 deficiency: progress in unraveling its genetic basis

van Karnebeek, Clara D. M.

January 2016

This commentry is on the original article by Liu et al. on pages 1295-1302 of this issu

REVIEW GLUT1 deficiency and other glucose transporter diseases

Juan M Pascual
Dong Wang
Beatriz Lecumberri
Hong Yang
Xia Mao
Ru Yang
Darryl C De Vivo

January 2015

We review the three genetically determined disorders of glucose transport across cell membranes. Dis...

GLUT1 deficiency syndrome into adulthood: a follow-up study

Leen, W.G.
Taher, M.
Verbeek, M.M.
Kamsteeg, E.J.
Warrenburg, B.P.C. van de
Willemsen, M.A.

January 2014

GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transpor...

Novel insight into GLUT1 Deficiency Syndrome: screening for emotional and behavioral problems in youths following ketogenic diet

Zanaboni Martina Paola
Varesio Costanza
Provenzi Livio
Pasca Ludovica
De Giorgis Valentina

February 2022

We performed an exploratory study to assess the risk of emotional and behavioral problems and invest...

Expanding Genetic and Clinical Spectrum of GLUT1D

J Gordon Millichap

April 2010

A multicenter international genetic and clinical study of GLUT1 deficiency received 132 requests for...

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Altassan, Ruqaiah
Radenkovic, Silvia
Edmondson, Andrew C
Barone, Rita
Brasil, Sandra
Cechova, Anna
Coman, David
Donoghue, Sarah
Falkenstein, Kristina
Ferreira, Vanessa
Ferreira, Carlos
Fiumara, Agata
Francisco, Rita
Freeze, Hudson
Grunewald, Stephanie
Honzik, Tomas
Jaeken, Jaak
Krasnewich, Donna
Lam, Christina
Lee, Joy
Lefeber, Dirk
Marques-da-Silva, Dorinda
Pascoal, Carlota
Quelhas, Dulce
Raymond, Kimiyo M
Rymen, Daisy
Seroczynska, Malgorzata
Serrano, Mercedes
Sykut-Cegielska, Jolanta
Thiel, Christian
Tort, Frederic
Vals, Mari-Anne
Videira, Paula
Voermans, Nicol
Witters, Peter
Morava, Eva

September 2020

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, ...

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Willemsen, M.A.A.P.
Vissers, L.E.L.M.
Verbeek, M.M.
Bon, B.W.M. van
Geuer, S.
Gilissen, C.F.
Klepper, J.
Kwint, M.P.
Leen, W.G.
Pennings, M.
Wevers, R.A.
Veltman, J.A.
Kamsteeg, E.J.

January 2017

Contains fulltext : 174080.pdf (publisher's version ) (Closed access)Glucose trans...

Glut-1 Deficiency Syndrome and Familial Epilepsy

J Gordon Millichap

October 2001

A family with autosomal dominant Glut-1 deficiency syndrome (DS) affecting 5 members over 3 generati...

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Lebon, Sébastien
Suarez, Philippe Emmanuel
Alija, Semsa
Korff, Christian
Fluss, Joel Victor
Mercati, Danielle
Datta, Alexandre
Poloni, Claudia
Marcoz, Jean-Pierre
Campos-Xavier, Ana Belinda
Bonafé, Luisa
Roulet-Perez, Eliane

January 2015

GLUT1 deficiency (GLUT1D) has recently been identified as an important cause of generalized epilepsi...

Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, L.C.
Rust, S.
Scherpenzeel, M. van
Ng, B.G.
Losfeld, M.E.
Timal, S.
Raymond, K.
He, P.
Ichikawa, M.
Veltman, J.A.
Huijben, K.
Shin, Y.S.
Sharma, V.
Adamowicz, M.
Lammens, M.
Reunert, J.
Witten, A.
Schrapers, E.
Matthijs, G.
Jaeken, J.
Rymen, D.
Stojkovic, T.
Laforet, P.
Petit, F.
Aumaitre, O.
Czarnowska, E.
Piraud, M.
Podskarbi, T.
Stanley, C.A.
Matalon, R.
Burda, P.
Seyyedi, S.
Debus, V.
Socha, P.
Sykut-Cegielska, J.
Spronsen, F. van
Meirleir, L. de
Vajro, P.
DeClue, T.
Ficicioglu, C.
Wada, Y.
Wevers, R.A.
Vanderschaeghe, D.
Callewaert, N.
Fingerhut, R.
Schaftingen, E. van
Freeze, H.H.
Morava, E.
Lefeber, D.J.
Marquardt, T.

January 2014

Contains fulltext : 137499.pdf (publisher's version ) (Open Access)BACKGROUND: Con...

Insight into "Consensus recommendations for diagnosis and treatment of glycogen storage disease typeⅡ"

Hong-zhi GUAN
Li-ying CUI

May 2014

Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by def...

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1—Biology and Deficiency Syndrome

Romana Vulturar
Adina Chiș
Sebastian Pintilie
Ilinca Maria Farcaș
Alina Botezatu
Cristian Cezar Login
Adela-Viviana Sitar-Taut
Olga Hilda Orasan
Adina Stan
Cecilia Lazea
Camelia Al-Khzouz
Monica Mager
Mihaela Adela Vințan
Simona Manole
Laura Damian

May 2022

Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucos...

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Klepper, J
Akman, C
Armeno, M
Auvin, S
Cervenka, M
Cross, HJ
De Giorgis, V
Della Marina, A
Engelstad, K
Heussinger, N
Kossoff, EH
Leen, WG
Leiendecker, B
Monani, UR
Oguni, H
Neal, E
Pascual, JM
Pearson, TS
Pons, R
Scheffer, IE
Veggiotti, P
Willemsen, M
Zuberi, SM
De Vivo, DC

September 2020

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose tr...

GLUT1 deficiency syndrome 2013: Current state of the art

De Giorgis, Valentina
Veggiotti, Pierangelo

December 2013

AbstractGlucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose t...

GLUT1 deficiency syndrome 2013: Current state of the art

Valentina De Giorgis
VEGGIOTTI, PIERANGELO

January 2013

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport...

GLUT1 deficiency: progress in unraveling its genetic basis

van Karnebeek, Clara D. M.

January 2016

This commentry is on the original article by Liu et al. on pages 1295-1302 of this issu

REVIEW GLUT1 deficiency and other glucose transporter diseases

Juan M Pascual
Dong Wang
Beatriz Lecumberri
Hong Yang
Xia Mao
Ru Yang
Darryl C De Vivo

January 2015

We review the three genetically determined disorders of glucose transport across cell membranes. Dis...

GLUT1 deficiency syndrome into adulthood: a follow-up study

Leen, W.G.
Taher, M.
Verbeek, M.M.
Kamsteeg, E.J.
Warrenburg, B.P.C. van de
Willemsen, M.A.

January 2014

GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transpor...

Novel insight into GLUT1 Deficiency Syndrome: screening for emotional and behavioral problems in youths following ketogenic diet

Zanaboni Martina Paola
Varesio Costanza
Provenzi Livio
Pasca Ludovica
De Giorgis Valentina

February 2022

We performed an exploratory study to assess the risk of emotional and behavioral problems and invest...

Expanding Genetic and Clinical Spectrum of GLUT1D

J Gordon Millichap

April 2010

A multicenter international genetic and clinical study of GLUT1 deficiency received 132 requests for...

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Altassan, Ruqaiah
Radenkovic, Silvia
Edmondson, Andrew C
Barone, Rita
Brasil, Sandra
Cechova, Anna
Coman, David
Donoghue, Sarah
Falkenstein, Kristina
Ferreira, Vanessa
Ferreira, Carlos
Fiumara, Agata
Francisco, Rita
Freeze, Hudson
Grunewald, Stephanie
Honzik, Tomas
Jaeken, Jaak
Krasnewich, Donna
Lam, Christina
Lee, Joy
Lefeber, Dirk
Marques-da-Silva, Dorinda
Pascoal, Carlota
Quelhas, Dulce
Raymond, Kimiyo M
Rymen, Daisy
Seroczynska, Malgorzata
Serrano, Mercedes
Sykut-Cegielska, Jolanta
Thiel, Christian
Tort, Frederic
Vals, Mari-Anne
Videira, Paula
Voermans, Nicol
Witters, Peter
Morava, Eva

September 2020

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, ...

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Willemsen, M.A.A.P.
Vissers, L.E.L.M.
Verbeek, M.M.
Bon, B.W.M. van
Geuer, S.
Gilissen, C.F.
Klepper, J.
Kwint, M.P.
Leen, W.G.
Pennings, M.
Wevers, R.A.
Veltman, J.A.
Kamsteeg, E.J.

January 2017

Contains fulltext : 174080.pdf (publisher's version ) (Closed access)Glucose trans...

Glut-1 Deficiency Syndrome and Familial Epilepsy

J Gordon Millichap

October 2001

A family with autosomal dominant Glut-1 deficiency syndrome (DS) affecting 5 members over 3 generati...

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Lebon, Sébastien
Suarez, Philippe Emmanuel
Alija, Semsa
Korff, Christian
Fluss, Joel Victor
Mercati, Danielle
Datta, Alexandre
Poloni, Claudia
Marcoz, Jean-Pierre
Campos-Xavier, Ana Belinda
Bonafé, Luisa
Roulet-Perez, Eliane

January 2015

GLUT1 deficiency (GLUT1D) has recently been identified as an important cause of generalized epilepsi...

Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, L.C.
Rust, S.
Scherpenzeel, M. van
Ng, B.G.
Losfeld, M.E.
Timal, S.
Raymond, K.
He, P.
Ichikawa, M.
Veltman, J.A.
Huijben, K.
Shin, Y.S.
Sharma, V.
Adamowicz, M.
Lammens, M.
Reunert, J.
Witten, A.
Schrapers, E.
Matthijs, G.
Jaeken, J.
Rymen, D.
Stojkovic, T.
Laforet, P.
Petit, F.
Aumaitre, O.
Czarnowska, E.
Piraud, M.
Podskarbi, T.
Stanley, C.A.
Matalon, R.
Burda, P.
Seyyedi, S.
Debus, V.
Socha, P.
Sykut-Cegielska, J.
Spronsen, F. van
Meirleir, L. de
Vajro, P.
DeClue, T.
Ficicioglu, C.
Wada, Y.
Wevers, R.A.
Vanderschaeghe, D.
Callewaert, N.
Fingerhut, R.
Schaftingen, E. van
Freeze, H.H.
Morava, E.
Lefeber, D.J.
Marquardt, T.

January 2014

Contains fulltext : 137499.pdf (publisher's version ) (Open Access)BACKGROUND: Con...

Insight into "Consensus recommendations for diagnosis and treatment of glycogen storage disease typeⅡ"

Hong-zhi GUAN
Li-ying CUI

May 2014

Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by def...

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1—Biology and Deficiency Syndrome

Romana Vulturar
Adina Chiș
Sebastian Pintilie
Ilinca Maria Farcaș
Alina Botezatu
Cristian Cezar Login
Adela-Viviana Sitar-Taut
Olga Hilda Orasan
Adina Stan
Cecilia Lazea
Camelia Al-Khzouz
Monica Mager
Mihaela Adela Vințan
Simona Manole
Laura Damian

May 2022

Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucos...

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Abstract

Extracted data

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Abstract

Extracted data

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