ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää, Maria
Ng, Bobby
Gallant, Natalie
Freeze, Hudson
Muller, Eric
Brown, Candida
Kimonis, Virginia
Singh, Kathryn

March 2019

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosyl...

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää, Maria K
Ng, Bobby G
Gallant, Natalie M
Singh, Kathryn E
Brown, Candida
Kimonis, Virginia
Freeze, Hudson H
Muller, Eric A

March 2019

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosyl...

The congenital disorders of glycosylation: a multifaceted group of syndromes.

Eklund, Erik
Freeze, Hudson H

January 2006

The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne DG
de Souza, Carolina Fischinger Moura
Schwartz, Ida VD
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J
Wevers, Ron A

September 2016

Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disord...

ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D G
de Souza, Carolina Fischinger Moura
Schwartz, Ida V D
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a con...

ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D G
de Souza, Carolina Fischinger Moura
Schwartz, Ida V D
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a con...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
Spronsen, van, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG:a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
Spronsen, van, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG:a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
Spronsen, van, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, E.
Tiemes, V.
Thiel, C.
Seta, N.
Lonlay, P. de
Klerk, H. de
Mulder, M.
Rubio-Gozalbo, E.
Visser, G.
Hasselt, P. van
Horovitz, D.D.
Souza, C.F. de
Schwartz, I.V.
Green, A.
Al-Owain, M.
Uziel, G.
Sigaudy, S.
Chabrol, B.
Spronsen, F.J. van
Steinert, M.
Komini, E.
Wurm, D.
Bevot, A.
Ayadi, A.
Huijben, K.
Dercksen, M.
Witters, P.
Jaeken, J.
Matthijs, G.
Lefeber, D.J.
Wevers, R.A.

January 2016

Contains fulltext : 167862.pdf (publisher's version ) (Open Access)INTRODUCTION: A...

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

rimella-le huu, a
Henry, H
Kern, Ilse
Hanquinet, Sylviane
Roulet-Perez, E
Newman, C J
Superti-Furga, A
Bonafé, L
Ballhausen, D

January 2008

Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused b...

Defining the Phenotype in Congenital Disorder of Glycosylation due to ALG1 Mutations

Morava, Eva
Vodopiutz, J
Lefeber, DJ
Janecke, AR
Schmidt, WM
Lechner, S
Item, CB
Sykut-Cegielska, J
Adamowicz, M
Wierzba, J
Zhang, ZH
Mihalek, I
Stockler, S
Bodamer, OA
Lehle, L
Wevers, RA

October 2012

Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to AL...

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

Morava, E.
Vodopiutz, J.
Lefeber, D.J.
Janecke, A.R.
Schmidt, W.M.
Lechner, S.
Item, C.B.
Sykut-Cegielska, J.
Adamowicz, M.
Wierzba, J.
Zhang, Z.H.
Mihalek, I.
Stockler, S.
Bodamer, O.A.
Lehle, L.
Wevers, R.A.

January 2012

Item does not contain fulltextDeficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder ...

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää, Maria
Ng, Bobby
Gallant, Natalie
Freeze, Hudson
Muller, Eric
Brown, Candida
Kimonis, Virginia
Singh, Kathryn

March 2019

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosyl...

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää, Maria K
Ng, Bobby G
Gallant, Natalie M
Singh, Kathryn E
Brown, Candida
Kimonis, Virginia
Freeze, Hudson H
Muller, Eric A

March 2019

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosyl...

The congenital disorders of glycosylation: a multifaceted group of syndromes.

Eklund, Erik
Freeze, Hudson H

January 2006

The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne DG
de Souza, Carolina Fischinger Moura
Schwartz, Ida VD
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J
Wevers, Ron A

September 2016

Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disord...

ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D G
de Souza, Carolina Fischinger Moura
Schwartz, Ida V D
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a con...

ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Tiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D G
de Souza, Carolina Fischinger Moura
Schwartz, Ida V D
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a con...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
Spronsen, van, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
van Spronsen, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG:a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
Spronsen, van, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG:a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva
Tiemes, Vera
Thiel, Christian
Seta, Nathalie
de Lonlay, Pascale
de Klerk, Hans
Mulder, Margot
Rubio-Gozalbo, Estela
Visser, Gepke
van Hasselt, Peter
Horovitz, Dafne D. G.
Moura de Souza, Carolina Fischinger
Schwartz, Ida V. D.
Green, Andrew
Al-Owain, Mohammed
Uziel, Graciella
Sigaudy, Sabine
Chabrol, Brigitte
Spronsen, van, Franc-Jan
Steinert, Martin
Komini, Eleni
Wurm, Donald
Bevot, Andrea
Ayadi, Addelkarim
Huijben, Karin
Dercksen, Marli
Witters, Peter
Jaeken, Jaak
Matthijs, Gert
Lefeber, Dirk J.
Wevers, Ron A.

September 2016

Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a cong...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, E.
Tiemes, V.
Thiel, C.
Seta, N.
Lonlay, P. de
Klerk, H. de
Mulder, M.
Rubio-Gozalbo, E.
Visser, G.
Hasselt, P. van
Horovitz, D.D.
Souza, C.F. de
Schwartz, I.V.
Green, A.
Al-Owain, M.
Uziel, G.
Sigaudy, S.
Chabrol, B.
Spronsen, F.J. van
Steinert, M.
Komini, E.
Wurm, D.
Bevot, A.
Ayadi, A.
Huijben, K.
Dercksen, M.
Witters, P.
Jaeken, J.
Matthijs, G.
Lefeber, D.J.
Wevers, R.A.

January 2016

Contains fulltext : 167862.pdf (publisher's version ) (Open Access)INTRODUCTION: A...

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

rimella-le huu, a
Henry, H
Kern, Ilse
Hanquinet, Sylviane
Roulet-Perez, E
Newman, C J
Superti-Furga, A
Bonafé, L
Ballhausen, D

January 2008

Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused b...

Defining the Phenotype in Congenital Disorder of Glycosylation due to ALG1 Mutations

Morava, Eva
Vodopiutz, J
Lefeber, DJ
Janecke, AR
Schmidt, WM
Lechner, S
Item, CB
Sykut-Cegielska, J
Adamowicz, M
Wierzba, J
Zhang, ZH
Mihalek, I
Stockler, S
Bodamer, OA
Lehle, L
Wevers, RA

October 2012

Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to AL...

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

Morava, E.
Vodopiutz, J.
Lefeber, D.J.
Janecke, A.R.
Schmidt, W.M.
Lechner, S.
Item, C.B.
Sykut-Cegielska, J.
Adamowicz, M.
Wierzba, J.
Zhang, Z.H.
Mihalek, I.
Stockler, S.
Bodamer, O.A.
Lehle, L.
Wevers, R.A.

January 2012

Item does not contain fulltextDeficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder ...

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää, Maria
Ng, Bobby
Gallant, Natalie
Freeze, Hudson
Muller, Eric
Brown, Candida
Kimonis, Virginia
Singh, Kathryn

March 2019

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosyl...

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää, Maria K
Ng, Bobby G
Gallant, Natalie M
Singh, Kathryn E
Brown, Candida
Kimonis, Virginia
Freeze, Hudson H
Muller, Eric A

March 2019

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosyl...

The congenital disorders of glycosylation: a multifaceted group of syndromes.

Eklund, Erik
Freeze, Hudson H

January 2006

The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Abstract

Extracted data

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Abstract

Extracted data

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