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Anales del Sistema Sanitario de Navarra
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This is an Open Access Journal

Open Access journal
ISSN (Online) 1137-6627
Published by SciELO

[672 journals]

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease
in children
- Abstract: Publication date: Available online 8 December 2021Source: Molecular Genetics and MetabolismAuthor(s): Lisa G. Riley, Michael Nafisinia, Minal J. Menezes, Reta Nambiar, Andrew Williams, Elizabeth H. Barnes, Arthavan Selvanathan, Kate Lichkus, Drago Bratkovic, Joy Yaplito-Lee, Kaustuv Bhattacharya, Carolyn Ellaway, Maina Kava, Shanti Balasubramaniam, John Christodoulou
Intestinal dysbiosis as a component of pathophysiology in succinic
semialdehyde dehydrogenase deficiency (SSADHD)
- Abstract: Publication date: Available online 3 December 2021Source: Molecular Genetics and MetabolismAuthor(s): Trevor O. Kirby, Xutong Shi, Dana Walters, Jean-Baptiste Roullet, K. Michael Gibson
Molecular biomarkers correlate with brain grey and white matter changes in
patients with mitochondrial m.3243A > G mutation
- Abstract: Publication date: Available online 30 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Stefania Evangelisti, Laura Ludovica Gramegna, Chiara La Morgia, Lidia Di Vito, Alessandra Maresca, Lia Talozzi, Claudio Bianchini, Micaela Mitolo, David Neil Manners, Leonardo Caporali, Maria Lucia Valentino, Rocco Liguori, Valerio Carelli, Raffaele Lodi, Claudia Testa, Caterina Tonon
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course
- Abstract: Publication date: Available online 27 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Chen Zhao, Youlin Wang, Hao Yang, Shupei Wang, Marie-Christine Tang, Denis Cyr, Fabienne Parente, Pierre Allard, Paula Waters, Alexandra Furtos, Gongshe Yang, Grant A. Mitchell
Neuropathology of murine Sanfilippo D syndrome
- Abstract: Publication date: Available online 24 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Keigo Takahashi, Steven Q. Le, Shih-hsin Kan, Matthew J. Jansen, Patricia I. Dickson, Jonathan D. Cooper
Alexander disease evolution over time: Data from an Italian cohort of
pediatric-onset patients
- Abstract: Publication date: Available online 24 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Eleonora Mura, Francesco Nicita, Silvia Masnada, Roberta Battini, Chiara Ticci, Martino Montomoli, Angela Berardinelli, Chiara Pantaleoni, Anna Ardissone, Thomas Foiadelli, Elena Tartara, Ettore Salsano, Pierangelo Veggiotti, Isabella Ceccherini, Isabella Moroni, Enrico Bertini, Davide Tonduti
Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability
of hematopoietic stem cells to rescue cystinosis in the mouse model
- Abstract: Publication date: Available online 17 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Spencer Goodman, Meisha Khan, Jay Sharma, Zijie Li, Jose Cano, Carlos Castellanos, Monica V. Estrada, Ilya Gertsman, Stephanie Cherqui
Metabolic providers in crisis – Burning out on the road to
burnout'
- Abstract: Publication date: Available online 16 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Georgianne L. Arnold, Shibani Kanungo, Lynn Bush, For the Wellness Committee of the Society for Inherited Metabolic Disorders
Reduction of glutamate neurotoxicity: A novel therapeutic approach for
Niemann-Pick disease, type C1
- Abstract: Publication date: Available online 16 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Antony Cougnoux, Julia C. Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Fatemeh Navid, Christopher A. Wassif, Niamh X. Cawley, Forbes D. Porter
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease
- Abstract: Publication date: Available online 16 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Sara Boenzi, Giulio Catesini, Elisa Sacchetti, Francesco Tagliaferri, Carlo Dionisi-Vici, Federica Deodato
Pediatric single large-scale mtDNA deletion syndromes: The power of
patient reported outcomes
- Abstract: Publication date: Available online 14 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Elizabeth Reynolds, Matthew Byrne, Rebecca Ganetzky, Sumit Parikh
A knock-in rat model unravels acute and chronic renal toxicity in glutaric
aciduria type I
- Abstract: Publication date: Available online 10 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Mary Gonzalez Melo, Andrea Fontana, David Viertl, Gilles Allenbach, John O. Prior, Samuel Rotman, René Günther Feichtinger, Johannes Adalbert Mayr, Michele Costanzo, Marianna Caterino, Margherita Ruoppolo, Olivier Braissant, Frederic Barbey, Diana Ballhausen
Assessing the effects of PMM2 variants on protein stability
- Abstract: Publication date: Available online 8 November 2021Source: Molecular Genetics and MetabolismAuthor(s): D. Quelhas, J. Carneiro, M. Lopes-Marques, J. Jaeken, E. Martins, J.F. Rocha, S.S. Teixeira Carla, C.R. Ferreira, S.F. Sousa, L. Azevedo
Cerebral palsy and related neuromotor disorders: Overview of genetic and
genomic studies
- Abstract: Publication date: Available online 8 November 2021Source: Molecular Genetics and MetabolismAuthor(s): Jan M. Friedman, Peter van Essen, Clara D.M. van Karnebeek
Cover 2 / Ed. Board
- Abstract: Publication date: November 2021Source: Molecular Genetics and Metabolism, Volume 134, Issue 3Author(s):
Physical therapy assessment and whole-body magnetic resonance imaging
findings in children with glycogen storage disease type IIIa: A clinical
study and review of the literature
- Abstract: Publication date: Available online 9 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Anna Paschall, Aleena A. Khan, Syed Faaiz Enam, Tracy Boggs, Ghada Hijazi, Michael Bowling, Stephanie Austin, Laura E. Case, Priya Kishnani
Natural history of children and adults with phenylketonuria in the NBS-PKU
Connect registry
- Abstract: Publication date: Available online 8 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Aileen Kenneson, Rani H. Singh
Corrigendum to eP296-The yield of thorough record review in the
Undiagnosed Diseases Network, Volume 132, Supplement 1, April 2021, Page
S187, https://doi.org/10.1016/S1096-7192(21)00378-4
- Abstract: Publication date: Available online 8 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Laurie Findley, John J. Mulvihill, Abbey Bentley, Jonathan A. Bernstein, Anna Bican, Lorenzo Botto, Lauren Briere, Manish J. Butte, Heidi Cope, Brent L. Fogel, Jason Hom, Elijah Kravets, Bryan C. Mak, Martin G. Martin, Julian A. Martinez-Agosto, Stanley F. Nelson, John Newman, Christina G.S. Palmer, Neil H. Parker, Jill A. Rosenfeld
Investigation of a dysmorphic facial phenotype in patients with Gaucher
disease types 2 and 3
- Abstract: Publication date: Available online 5 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Emily Daykin, Nicole Fleischer, Magy Abdelwahab, Nehal Hassib, Raphael Schiffmann, Emory Ryan, Ellen Sidransky
Achieving efficacy in subjects with sustained pegvaliase-neutralizing
antibody responses
- Abstract: Publication date: Available online 4 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Madhukar Aryal, Kelly Lau, Ryan Boyer, Huiyu Zhou, Johanna Abend, Karen Gu, Joy Olbertz, Soumi Gupta, Stephen Zoog, Kevin Larimore
Metabolic perturbations mediated by propionyl-CoA accumulation in organs
of mouse model of propionic acidemia
- Abstract: Publication date: Available online 4 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Wentao He, You Wang, Erik J. Xie, Michael A. Barry, Guo-Fang Zhang
Correlations of blood and brain biochemistry in phenylketonuria: Results
from the Pah-enu2 PKU mouse
- Abstract: Publication date: Available online 2 October 2021Source: Molecular Genetics and MetabolismAuthor(s): Allysa M. Dijkstra, Ninke van Vliet, Danique van Vliet, Cristina Romani, Stephan C.J. Huijbregts, Els van der Goot, Iris B. Hovens, Eddy A. van der Zee, Ido P. Kema, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Diagnostic challenges and disease management in patients with a mild
Zellweger spectrum disorder phenotype
- Abstract: Publication date: Available online 27 September 2021Source: Molecular Genetics and MetabolismAuthor(s): Gregory M. Enns, Zineb Ammous, Ryan W. Himes, Janaina Nogueira, Sirish Palle, Meghan Sullivan, Charina Ramirez
Variants in the MIPEP gene presenting with complex neurological phenotype
without cardiomyopathy, impair OXPHOS protein maturation and lead to a
reduced OXPHOS abundance in patient cells
- Abstract: Publication date: Available online 25 September 2021Source: Molecular Genetics and MetabolismAuthor(s): Juliette Pulman, Benedetta Ruzzenente, Martin Horak, Giulia Barcia, Nathalie Boddaert, Arnold Munnich, Agnès Rötig, Metodi D. Metodiev
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase
in patients with Sanfilippo syndrome type A
- Abstract: Publication date: Available online 14 September 2021Source: Molecular Genetics and MetabolismAuthor(s): Frits A. Wijburg, Fiona Heap, Stewart Rust, Jessica de Ruijter, Evelien Tump, Jan Pieter Marchal, Igor Nestrasil, Elsa Shapiro, Simon A. Jones, David Alexanderian
Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular
and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019
May;127(1):12–22]
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Corinne Gemperle, Todd Berner, Keith Hyland, Beat Thöny, Georg F. Hoffmann, Carla B. Voltattorni, Nenad Blau
Assessing causal associations of obesity and diabetes with kidney stones
using Mendelian randomization analysis
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Shuai Yuan, Susanna C. Larsson
High-fat diet associated sensitization to metabolic stress in
Wfs1 heterozygous mice
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Marilin Ivask, Vallo Volke, Atso Raasmaja, Sulev Kõks
Functional analysis of a de novo variant in the neurodevelopment and
generalized epilepsy disease gene NBEA
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Thomas Boulin, Omar Itani, Sonia El Mouridi, Alice Leclercq-Blondel, Marie Gendrel, Ellen Macnamara, Ariane Soldatos, Jennifer L. Murphy, Mark P. Gorman, Anika Lindsey, Shino Shimada, Darian Turner, Gary A. Silverman, Dustin Baldridge, Undiagnosed Diseases Network, May C. Malicdan, Tim Schedl, Stephen C. Pak
Machine learning-based identification and characterization of 15 novel
pathogenic SUOX missense mutations
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Alexander Tobias Kaczmarek, Nike Bahlmann, Besarta Thaqi, Patrick May, Guenter Schwarz
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the
United States
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Barbara K. Burton, Alexandra G. Ellis, Blair Orr, Shilpa Chatlani, Kwangchae Yoon, Jessica R. Shoaff, Dan Gallo
A multicenter open-label extension study of intrathecal
heparan-N-sulfatase in patients with Sanfilippo syndrome type A
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Frits A. Wijburg, Chester B. Whitley, Joseph Muenzer, Serena Gasperini, Mireia del Toro, Nicole Muschol, Maureen Cleary, Caroline Sevin, Elsa Shapiro, David Alexanderian
Natural history of Tay-Sachs disease in sheep
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Brett Story, Toloo Taghian, Jillian Gallagher, Jey Koehler, Amanda Taylor, Ashley Randle, Kayly Nielsen, Amanda Gross, Annie Maguire, Sara Carl, Siauna Johnson, Deborah Fernau, Elise Diffie, Paul Cuddon, Carly Corado, Sundeep Chandra, Miguel Sena-Esteves, Edwin Kolodny, Xuntian Jiang, Douglas Martin
Development and characterization of a mouse model for Acad9
deficiency
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Andrew Sinsheimer, Al-Walid Mohsen, Kailyn Bloom, Anuradha Karunanidhi, Sivakama Bharathi, Yijen L. Wu, Manuel Schiff, Yudong Wang, Eric S. Goetzman, Lina Ghaloul-Gonzalez, Jerry Vockley
Compound heterozygosis in AADC deficiency: A complex phenotype dissected
through comparison among heterodimeric and homodimeric AADC proteins
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Carmen Longo, Riccardo Montioli, Giovanni Bisello, Luana Palazzi, Mario Mastrangelo, Heiko Brennenstuhl, Patrizia Polverino de Laureto, Thomas Opladen, Vincenzo Leuzzi, Mariarita Bertoldi
Muscle-directed AAV gene therapy rescues the maple syrup urine disease
phenotype in a mouse model
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Jenny A. Greig, Matthew Jennis, Aditya Dandekar, Joanna K. Chorazeczewski, Melanie K. Smith, Scott N. Ashley, Hanying Yan, James M. Wilson
Transient developmental delays in infants with Duarte-2 variant
galactosemia
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Susan E. Waisbren, Catherine Tran, Didem Demirbas, Cynthia S. Gubbels, Margaret Hsiao, Vikram Daesety, Gerard T. Berry
Gene therapy for Fabry disease: Progress, challenges, and outlooks on
gene-editing
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Jakob M. Domm, Sarah K. Wootton, Jeffrey A. Medin, Michael L. West
A review of treatment modalities in gyrate atrophy of the choroid and
retina (GACR)
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Berith M. Balfoort, Mark J.N. Buijs, Anneloor L.M.A. ten Asbroek, Arthur A.B. Bergen, Camiel J.F. Boon, Elise A. Ferreira, Riekelt H. Houtkooper, Margreet A.E.M. Wagenmakers, Ronald J.A. Wanders, Hans R. Waterham, Corrie Timmer, Clara D. van Karnebeek, Marion M. Brands
Clinical and biochemical footprints of inherited metabolic diseases. VI.
Metabolic dermatoses
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Carlos R. Ferreira, Diego Martinelli, Nenad Blau
Current advances in overcoming obstacles of CRISPR/Cas9 off-target genome
editing
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Guillermo Aquino-Jarquin
Issues of COVID-19-related distance learning for children with
neuronopathic mucopolysaccharidoses
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Julie B. Eisengart, Amy N. Esler, N. Mathew Ellinwood, Rebekah L. Hudock, Kelly E. King, Terri L. Klein, Chimei Lee, Jonathan Morton, Kim Stephens, Richard Ziegler, Cara O'Neill
Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn
screening algorithm by implementing floating cutoffs
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Stacey L. Martiniano, Kendra Croak, Gregory Bonn, Marci K. Sontag, Scott D. Sagel
Prospective identification by neonatal screening of patients with
guanidinoacetate methyltransferase deficiency
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Kim Hart, Andreas Rohrwasser, Heidi Wallis, Heather Golsan, Jianyin Shao, Taylor Anderson, Xiaoli Wang, Nicolas Szabo-Fresnais, Mark Morrissey, Denise M. Kay, Matthew Wojcik, Patricia A. Galvin-Parton, Nicola Longo, Michele Caggana, Marzia Pasquali
Consensus recommendations for the classification and long-term follow up
of infants who screen positive for Krabbe Disease
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Robert Thompson-Stone, Margie A. Ream, Michael Gelb, Dietrich Matern, Joseph J. Orsini, Paul A. Levy, Jennifer P. Rubin, David A. Wenger, Barbara K. Burton, Maria L. Escolar, Joanne Kurtzberg
Detecting lysosomal storage disorders by glycomic profiling using liquid
chromatography mass spectrometry
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Justin Mak, Tina M. Cowan
Prospective diagnosis of MT-ATP6-related mitochondrial disease by
newborn screening
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Ryan H. Peretz, Nicholas Ah Mew, Hilary J. Vernon, Rebecca D. Ganetzky
Characterization of variants of uncertain significance in isovaleryl-CoA
dehydrogenase identified through newborn screening: An approach for faster
analysis
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Olivia M. D'Annibale, Erik A. Koppes, Ahmad N. Alodaib, Catherine Kochersperger, Anuradha Karunanidhi, Al-Walid Mohsen, Jerry Vockley
Health care practitioners' experience-based opinions on providing care
after a positive newborn screen for Pompe disease
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Laura Davids, Yuxian Sun, Reneé H. Moore, Emily Lisi, Angela Wittenauer, William R. Wilcox, Nadia Ali
Challenging the dogma of the healthy heterozygote: Implications for
newborn screening policies and practices
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Philip M. Farrell, Elinor Langfelder-Schwind, Michael H. Farrell
Newborn screening system: Safety, technology, advocacy
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): Edward R.B. McCabe
In Memoriam: Professor Lee-Jun Wong, Ph.D.
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s): William J. Craigen, Fernando Scaglia
Cover 2 / Ed. Board
- Abstract: Publication date: September–October 2021Source: Molecular Genetics and Metabolism, Volume 134, Issues 1–2Author(s):
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect
of both a pandemic and a rare disease that disrupts the immune system
- Abstract: Publication date: Available online 13 August 2021Source: Molecular Genetics and MetabolismAuthor(s): Praveena Narayanan, Shiny Nair, Manisha Balwani, Maricar Malinis, Pramod Mistry
MPS VI associated ocular phenotypes in an MPS VI murine model and the
therapeutic effects of odiparcil treatment
- Abstract: Publication date: Available online 25 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Eugeni Entchev, Sophie Antonelli, Virginie Mauro, Nicolas Cimbolini, Ingrid Jantzen, Aurelie Roussey, Jeanne-Marie Germain, Haoyue Zhang, Jean-Michel Luccarrini, Olivier Lacombe, Sarah P. Young, Laurence Feraille, Mireille Tallandier
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of
diagnostic yield between children and adult population
- Abstract: Publication date: Available online 21 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Haifa Al Zahrani, Komudi Siriwardena, Dana Young, Anna Lehman, Gabriella A. Horvath, Helly Goez
Genetic counseling considerations in cerebral palsy
- Abstract: Publication date: Available online 18 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Alison M. Elliott, Colleen Guimond
Childhood-onset hereditary spastic paraplegia and its treatable mimics
- Abstract: Publication date: Available online 24 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Darius Ebrahimi-Fakhari, Afshin Saffari, Phillip L. Pearl
Clinical and biochemical footprints of inherited metabolic disease. V.
Cerebral palsy phenotypes
- Abstract: Publication date: Available online 13 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Gabriella A. Horvath, Nenad Blau, Carlos R. Ferreira