Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency.

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

Barbosa, E.A.
Fontes, N.D.C.
Santos, S.C.L.
Lefeber, D.J.
Bloch, C.
Brum, J.M.
Brand, G.D.

January 2019

Contains fulltext : 203046.pdf (publisher's version ) (Closed access

Capillary gas chromatography-mass spectrometry (GC/MS) of amino acids as tert-butyldimethylsilyl derivatives.

Corso G.
Gallo M.
DELLO RUSSO, ANTONIO

January 1989

Capillary gas chromatography-mass spectrometry (GC/MS) of amino acids as tert-butyldimethylsilyl der...

N-Acetylglutamate Synthetase: Enzyme Assay in Human Liver1)

J. P. Colombo
S. Krähenbühl
C Bachmann
P. Aeberhard

January 1981

Summary: In the context of diagnostic procedures for congenital hyperammonaemias a method is describ...

Aminoacylase I deficiency: a novel inborn error of metabolism.

Coster, R. van
Gerlo, E.A.
Giardina, T.G.
Engelke, U.F.H.
Smet, J.E.
Praeter, C.M. de
Meersschaut, V.A.
Meirleir, L. de
Seneca, S.
Devreese, B.
Leroy, J.G.
Herga, S.
Perrier, J.P.
Wevers, R.A.
Lissens, W.

January 2005

Contains fulltext : 48617.pdf (publisher's version ) (Closed access)This is the fi...

Aminoacylase I deficiency: A novel inborn error of metabolism

Van Coster, Rudy
Smet, Joel
Leroy, Jules
Gerlo, Erik
Giardina, Thierry T.G.
Herga, Sameh
Perrier, Josette J.P.
Engelke, Udo F H U.F.
Wevers, Ron Allan
De Praeter, Claudine C.M.
Meersschaut, Valérie
De Meirleir, Linda
Seneca, Sara
Lissens, Willy
Devreese, Bart

December 2005

This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated a...

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.

Engelke, U.F.H.
Sass, J.O.
Coster, R. van
Gerlo, E.A.
Olbrich, H.
Krywawych, S.
Calvin, J.
Hart, C.
Omran, H.
Wevers, R.A.

January 2008

Contains fulltext : 70907.pdf (publisher's version ) (Closed access)Aminoacylase 1...

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass, J.O.
Mohr, V.
Olbrich, H.
Engelke, U.F.H.
Horvath, J.
Fliegauf, M.
Loges, N.T.
Schweitzer-Krantz, S.
Moebus, R.
Weiler, P.
Kispert, A.
Superti-Furga, A.
Wevers, R.A.
Omran, H.

January 2006

Contains fulltext : 50017.pdf (publisher's version ) (Closed access)N-terminal ace...

The molecular basis of aminoacylase 1 deficiency

Sommer, Anke
Christensen, Ernst
Schwenger, Susanne
Seul, Ralf
Haas, Dorothea
Olbrich, Heike
Omran, Heymut
Sass, Jörn Oliver

June 2011

AbstractAminoacylase 1 is a zinc-binding enzyme which hydrolyzes N-acetyl amino acids into the free ...

Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

Sass, Jörn Oliver
Mohr, Verena
Olbrich, Heike
Engelke, Udo
Horvath, Judit
Fliegauf, Manfred
Loges, Niki Tomas
Schweitzer-Krantz, Susanne
Moebus, Ralf
Weiler, Polly
Kispert, Andreas
Superti-Furga, Andrea
Wevers, Ron A.
Omran, Heymut

March 2006

N-terminal acetylation of proteins is a widespread and highly conserved process. Aminoacylase 1 (ACY...

Gas Chromatography in Diagnostic Biochemistry of Abnormal Valine Metabolism

Hugh N. Tucker
Samuel V. Molinary

January 1973

Amino acids in biological fluids can be rapidly and accurately quantitated by gas chromatography. Mo...

Aminoacylase 1 deficiency associated with autistic behavior

Tylki-Szymanska, Anna
Gradowska, Wanda
Sommer, Anke
Heer, Angelina
Walter, Melanie
Reinhard, Christina
Omran, Heymut
Sass, Jörn Oliver
Jurecka, Agnieszka

January 2010

Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the pat...

Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum

Alessandrì, Maria G
Casarano, MANUELA RITA
Pezzini, Ilaria
Doccini, Stefano
Nesti, Claudia
Cioni, Giovanni
Battini, Roberta

January 2014

Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous ...

The application of gas-liquid chromatography and mass spectrometry of amino acids to the diagnosis and study of metabolic disorders

Williams, Kenneth Mapson

January 1975

The present study was aimed at the development of a method suitable for the gas-liquid chromatograph...

A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

Carter K. Asef
Kameron M. Khaksarfard
Víctor R. De Jesús

November 2016

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder whic...

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

Dercksen, Marli
Duran, Marinus
Ijlst, Lodewijk
Kulik, Wim
Ruiter, Jos P. N.
van Cruchten, Arno
Tuchman, Mendel
Wanders, Ronald J. A.

January 2016

N-acetylglutamate synthase (NAGS) plays a key role in the removal of ammonia via the urea cycle by c...

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

Barbosa, E.A.
Fontes, N.D.C.
Santos, S.C.L.
Lefeber, D.J.
Bloch, C.
Brum, J.M.
Brand, G.D.

January 2019

Contains fulltext : 203046.pdf (publisher's version ) (Closed access

Capillary gas chromatography-mass spectrometry (GC/MS) of amino acids as tert-butyldimethylsilyl derivatives.

Corso G.
Gallo M.
DELLO RUSSO, ANTONIO

January 1989

Capillary gas chromatography-mass spectrometry (GC/MS) of amino acids as tert-butyldimethylsilyl der...

N-Acetylglutamate Synthetase: Enzyme Assay in Human Liver1)

J. P. Colombo
S. Krähenbühl
C Bachmann
P. Aeberhard

January 1981

Summary: In the context of diagnostic procedures for congenital hyperammonaemias a method is describ...

Aminoacylase I deficiency: a novel inborn error of metabolism.

Coster, R. van
Gerlo, E.A.
Giardina, T.G.
Engelke, U.F.H.
Smet, J.E.
Praeter, C.M. de
Meersschaut, V.A.
Meirleir, L. de
Seneca, S.
Devreese, B.
Leroy, J.G.
Herga, S.
Perrier, J.P.
Wevers, R.A.
Lissens, W.

January 2005

Contains fulltext : 48617.pdf (publisher's version ) (Closed access)This is the fi...

Aminoacylase I deficiency: A novel inborn error of metabolism

Van Coster, Rudy
Smet, Joel
Leroy, Jules
Gerlo, Erik
Giardina, Thierry T.G.
Herga, Sameh
Perrier, Josette J.P.
Engelke, Udo F H U.F.
Wevers, Ron Allan
De Praeter, Claudine C.M.
Meersschaut, Valérie
De Meirleir, Linda
Seneca, Sara
Lissens, Willy
Devreese, Bart

December 2005

This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated a...

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.

Engelke, U.F.H.
Sass, J.O.
Coster, R. van
Gerlo, E.A.
Olbrich, H.
Krywawych, S.
Calvin, J.
Hart, C.
Omran, H.
Wevers, R.A.

January 2008

Contains fulltext : 70907.pdf (publisher's version ) (Closed access)Aminoacylase 1...

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass, J.O.
Mohr, V.
Olbrich, H.
Engelke, U.F.H.
Horvath, J.
Fliegauf, M.
Loges, N.T.
Schweitzer-Krantz, S.
Moebus, R.
Weiler, P.
Kispert, A.
Superti-Furga, A.
Wevers, R.A.
Omran, H.

January 2006

Contains fulltext : 50017.pdf (publisher's version ) (Closed access)N-terminal ace...

The molecular basis of aminoacylase 1 deficiency

Sommer, Anke
Christensen, Ernst
Schwenger, Susanne
Seul, Ralf
Haas, Dorothea
Olbrich, Heike
Omran, Heymut
Sass, Jörn Oliver

June 2011

AbstractAminoacylase 1 is a zinc-binding enzyme which hydrolyzes N-acetyl amino acids into the free ...

Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

Sass, Jörn Oliver
Mohr, Verena
Olbrich, Heike
Engelke, Udo
Horvath, Judit
Fliegauf, Manfred
Loges, Niki Tomas
Schweitzer-Krantz, Susanne
Moebus, Ralf
Weiler, Polly
Kispert, Andreas
Superti-Furga, Andrea
Wevers, Ron A.
Omran, Heymut

March 2006

N-terminal acetylation of proteins is a widespread and highly conserved process. Aminoacylase 1 (ACY...

Gas Chromatography in Diagnostic Biochemistry of Abnormal Valine Metabolism

Hugh N. Tucker
Samuel V. Molinary

January 1973

Amino acids in biological fluids can be rapidly and accurately quantitated by gas chromatography. Mo...

Aminoacylase 1 deficiency associated with autistic behavior

Tylki-Szymanska, Anna
Gradowska, Wanda
Sommer, Anke
Heer, Angelina
Walter, Melanie
Reinhard, Christina
Omran, Heymut
Sass, Jörn Oliver
Jurecka, Agnieszka

January 2010

Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the pat...

Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum

Alessandrì, Maria G
Casarano, MANUELA RITA
Pezzini, Ilaria
Doccini, Stefano
Nesti, Claudia
Cioni, Giovanni
Battini, Roberta

January 2014

Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous ...

The application of gas-liquid chromatography and mass spectrometry of amino acids to the diagnosis and study of metabolic disorders

Williams, Kenneth Mapson

January 1975

The present study was aimed at the development of a method suitable for the gas-liquid chromatograph...

A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

Carter K. Asef
Kameron M. Khaksarfard
Víctor R. De Jesús

November 2016

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder whic...

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

Dercksen, Marli
Duran, Marinus
Ijlst, Lodewijk
Kulik, Wim
Ruiter, Jos P. N.
van Cruchten, Arno
Tuchman, Mendel
Wanders, Ronald J. A.

January 2016

N-acetylglutamate synthase (NAGS) plays a key role in the removal of ammonia via the urea cycle by c...

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

Barbosa, E.A.
Fontes, N.D.C.
Santos, S.C.L.
Lefeber, D.J.
Bloch, C.
Brum, J.M.
Brand, G.D.

January 2019

Contains fulltext : 203046.pdf (publisher's version ) (Closed access

Capillary gas chromatography-mass spectrometry (GC/MS) of amino acids as tert-butyldimethylsilyl derivatives.

Corso G.
Gallo M.
DELLO RUSSO, ANTONIO

January 1989

Capillary gas chromatography-mass spectrometry (GC/MS) of amino acids as tert-butyldimethylsilyl der...

N-Acetylglutamate Synthetase: Enzyme Assay in Human Liver1)

J. P. Colombo
S. Krähenbühl
C Bachmann
P. Aeberhard

January 1981

Summary: In the context of diagnostic procedures for congenital hyperammonaemias a method is describ...

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency.

Abstract

Extracted data

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency.

Abstract

Extracted data

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