Journal of inherited metabolic disease

Keyphrases

Publications

volume 47, number 2, 2024

Laura Hewson, Amanda Choo, Dani L Webber, Paul J Trim, Marten F Snel, Anthony O Fedele, John J Hopwood, Kim M Hemsley, Louise V O'Keefe
Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation. Journal of inherited metabolic disease 47 (2) (2024)
Drago Bratkovic, Curtis Gravance, David Ketteridge, Ravi Krishnan, Divya Navuru, Michael Sheehan, Donna Skerrett, Michael Imperiale
Open-label, single-center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I. Journal of inherited metabolic disease 47 (2) (2024)
Sander F Garrelfs, Serhii Chornyi, Heleen Te Brinke, Jos Ruiter, Jaap Groothoff, Ronald J A Wanders
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate. Journal of inherited metabolic disease 47 (2) (2024)
Steffi Dreha-Kulaczewski, Prativa Sahoo, Matthias Preusse, Irini Gkalimani, Peter Dechent, Gunther Helms, Sabine Hofer, Robert Steinfeld, Jutta Gärtner
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach. Journal of inherited metabolic disease 47 (2) (2024)
Steffi Dreha-Kulaczewski, Prativa Sahoo, Matthias Preusse, Irini Gkalimani, Peter Dechent, Gunther Helms, Sabine Hofer, Robert Steinfeld, Jutta Gärtner
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach. Journal of inherited metabolic disease 47 (2) (2024)

volume 47, number 3, 2024

Kunwar Jung-Kc, Alba Tristán-Noguero, Altanchimeg Altankhuyag, David Piñol Belenguer, Karina S Prestegård, Irene Fernandez-Carasa, Arianna Colini Baldeschi, Maria Sigatulina Bondarenko, Angeles García-Cazorla, Antonella Consiglio, Aurora Martinez
Tetrahydrobiopterin (BH 4 ) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model. Journal of inherited metabolic disease 47 (3) (2024)
Beat Thöny, Joanne Ng, Manju A Kurian, Philippa Mills, Aurora Martinez
Mouse models for inherited monoamine neurotransmitter disorders. Journal of inherited metabolic disease 47 (3) (2024)
Thomas Opladen, Mariarita Bertoldi
Neurotransmitters … it is all about communication! Journal of inherited metabolic disease 47 (3) (2024)
Kunwar Jung-Kc, Alba Tristán-Noguero, Altanchimeg Altankhuyag, David Piñol Belenguer, Karina S Prestegård, Irene Fernandez-Carasa, Arianna Colini Baldeschi, Maria Sigatulina Bondarenko, Angeles García-Cazorla, Antonella Consiglio, Aurora Martinez
Tetrahydrobiopterin (BH 4 ) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model. Journal of inherited metabolic disease 47 (3) (2024)
Beat Thöny, Joanne Ng, Manju A Kurian, Philippa Mills, Aurora Martinez
Mouse models for inherited monoamine neurotransmitter disorders. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Thomas Opladen, Mariarita Bertoldi
Neurotransmitters … it is all about communication! Journal of inherited metabolic disease 47 (3) (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Beat Thöny, Joanne Ng, Manju A Kurian, Philippa Mills, Aurora Martinez
Mouse models for inherited monoamine neurotransmitter disorders. Journal of inherited metabolic disease 47 (3) (2024)
Kunwar Jung-Kc, Alba Tristán-Noguero, Altanchimeg Altankhuyag, David Piñol Belenguer, Karina S Prestegård, Irene Fernandez-Carasa, Arianna Colini Baldeschi, Maria Sigatulina Bondarenko, Angeles García-Cazorla, Antonella Consiglio, Aurora Martinez
Tetrahydrobiopterin (BH 4 ) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model. Journal of inherited metabolic disease 47 (3) (2024)
Henry Hing Cheong Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Thomas Opladen, Mariarita Bertoldi
Neurotransmitters … it is all about communication! Journal of inherited metabolic disease 47 (3) (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)

volume 47, number 4, 2024

François Feillet, Can Ficicioglu, Florian B Lagler, Nicola Longo, Ania C Muntau, Alberto Burlina, Friedrich K Trefz, Francjan J van Spronsen, Jean-Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E Clague, Richard Rowell, Barbara K Burton, null null
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries. Journal of inherited metabolic disease 47 (4) (2024)
Annemiek M J van Wegberg, J C van der Weerd, U F H Engelke, K L M Coene, R Jahja, S J L Bakker, S C J Huijbregts, Ron A Wevers, M R Heiner-Fokkema, Francjan J van Spronsen
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria. Journal of inherited metabolic disease 47 (4) (2024)
Melissa Anne Walker, Shuqiang Li, Kenneth J Livak, Amel Karaa, Catherine J Wu, Vamsi K Mootha
T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood. Journal of inherited metabolic disease 47 (4) (2024)
Robert Hegarty, Richard J Thompson
Genetic aetiologies of acute liver failure. Journal of inherited metabolic disease 47 (4) (2024)
Earnest J P Daniel, Andrew C Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H Freeze, Miao He
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. Journal of inherited metabolic disease 47 (4) (2024)
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L Scanga, Ken K Nischal, Jose-Alain Sahel, Georgianne Arnold, Jerry Vockley, Cary O Harding, Mark E Pennesi
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. Journal of inherited metabolic disease 47 (4) (2024)
Yvonne Mücke, Natalia Jablonka, Nicole Rimann, Hiu Man Grisch-Chan, Bernhard Hoffmann, Stefan Schillberg, Beat Thöny, Stefan Rasche
A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria. Journal of inherited metabolic disease 47 (4) (2024)
Earnest J P Daniel, Andrew C Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H Freeze, Miao He
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. Journal of inherited metabolic disease 47 (4) (2024)
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L Scanga, Ken K Nischal, Jose-Alain Sahel, Georgianne Arnold, Jerry Vockley, Cary O Harding, Mark E Pennesi
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. Journal of inherited metabolic disease 47 (4) (2024)
Anna Theresa Reischl, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer-Steinhoff, Sarah C Grünert, Eva Thimm, Peter Freisinger, Julia B Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F Hoffmann, Sven F Garbade, Stefan Kölker, Ulrike Mütze
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias. Journal of inherited metabolic disease 47 (4) (2024)
Brendan P Norman, H Sutherland, P J M Wilson, D A Rutland, A M Milan, A T Hughes, A S Davison, M Khedr, J C Jarvis, J A Gallagher, G Bou-Gharios, L R Ranganath
Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria. Journal of inherited metabolic disease 47 (4) (2024)
Anna Theresa Reischl, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer-Steinhoff, Sarah C Grünert, Eva Thimm, Peter Freisinger, Julia B Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F Hoffmann, Sven F Garbade, Stefan Kölker, Ulrike Mütze
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias. Journal of inherited metabolic disease 47 (4) (2024)
Earnest J P Daniel, Andrew C Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H Freeze, Miao He
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. Journal of inherited metabolic disease 47 (4) (2024)
Murtadha L Al-Saady, Hristina Galabova, Daphne H Schoenmakers, Shanice Beerepoot, Caroline A Lindemans, Peter M van Hasselt, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy. Journal of inherited metabolic disease 47 (4) (2024)
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L Scanga, Ken K Nischal, Jose-Alain Sahel, Georgianne Arnold, Jerry Vockley, Cary O Harding, Mark E Pennesi
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. Journal of inherited metabolic disease 47 (4) (2024)
Alexandra Klein, Katharina Klug, Maximilian Breyer, Julia Grüner, Vijay Krishna Medala, Peter Nordbeck, Christoph Wanner, Eva Klopocki, Nurcan Üçeyler
Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease. Journal of inherited metabolic disease 47 (4) (2024)
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. Journal of inherited metabolic disease 47 (4) (2024)
Britt Derks, Varsha Shashi Kumar, Sai Yadnik, Bianca Panis, Annet M Bosch, David Cassiman, Mirian C H Janssen, Teresa Schuhmann, M Estela Rubio-Gozalbo, Bernadette M Jansma
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients. Journal of inherited metabolic disease 47 (4) (2024)
Inês M S Guerra, Helena B Ferreira, Tatiana Maurício, Marisa Pinho, Luísa Diogo, Sónia Moreira, Laura Goracci, Stefano Bonciarelli, Tânia Melo, Pedro Domingues, M Rosário Domingues, Ana S P Moreira
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency. Journal of inherited metabolic disease 47 (4) (2024)
François Feillet, Can Ficicioglu, Florian B Lagler, Nicola Longo, Ania C Muntau, Alberto Burlina, Friedrich K Trefz, Francjan J van Spronsen, Jean-Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E Clague, Richard Rowell, Barbara K Burton, null null
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries. Journal of inherited metabolic disease 47 (4) (2024)
Melissa Anne Walker, Shuqiang Li, Kenneth J Livak, Amel Karaa, Catherine J Wu, Vamsi K Mootha
T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood. Journal of inherited metabolic disease 47 (4) (2024)
Wladimir Mauhin, Gaelle Dzangue-Tchoupou, Damien Amelin, Aurélien Corneau, Foudil Lamari, Yves Allenbach, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove, Olivier Benveniste
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease. Journal of inherited metabolic disease 47 (4) (2024)
Sara Mazzini, Sai Yadnik, Inge Timmers, M Estela Rubio-Gozalbo, Bernadette M Jansma
Altered neural oscillations in classical galactosaemia during sentence production. Journal of inherited metabolic disease 47 (4) (2024)
Daniela V Luquetti, Linda J B Jeng, Kathleen M Donohue, Janet W Maynard, null null
Regulatory news: Cipaglucosidase alfa-atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late-onset Pompe disease. Journal of inherited metabolic disease 47 (4) (2024)
Earnest J P Daniel, Andrew C Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H Freeze, Miao He
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. Journal of inherited metabolic disease 47 (4) (2024)
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. Journal of inherited metabolic disease 47 (4) (2024)
Yuen Yi Hon, Anita Zaidi, null null, Kathleen Donohue, Christine Nguyen
Regulatory news: Olipudase alfa-rpcp (Xenpozyme™) for treatment of non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients-FDA Approval summary. Journal of inherited metabolic disease 47 (4) (2024)
Samuel Groeschel, Shanice Beerepoot, Lucas Bastian Amedick, Ingeborg Krӓgeloh-Mann, Jing Li, David A H Whiteman, Nicole I Wolf, John D Port
The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy. Journal of inherited metabolic disease 47 (4) (2024)
Jan J A van den Dorpel, M J Mackenbach, M H G Dremmen, W M C van der Vlugt, D Rizopoulos, P A van Doorn, A T van der Ploeg, R Muetzel, N A M E van der Beek, J M P van den Hout
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning. Journal of inherited metabolic disease 47 (4) (2024)