Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
Publication date: Available online 7 July 2020Source: Molecular Genetics and MetabolismAuthor(s): Heiko Brennenstuhl, Sven F. Garbade, Jürgen G. Okun, Patrik Feyh, Georg F. Hoffmann, Claus-Dieter Langhans, Thomas Opladen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research

Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
Publication date: Available online 8 July 2020Source: Molecular Genetics and MetabolismAuthor(s): C. Bascunana, J. El Helou, F.T. Rauch, G. Bardai, F.H. Glorieux, J.-B. Riviere, P. Byers, P.B. Kaplan, D.S. Rosenblatt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: August 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: August 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research

Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications
Publication date: Available online 27 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Martine Uittenbogaard, Anne Chiaramello (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 28, 2020 Category: Genetics & Stem Cells Source Type: research

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, Alberto Burlina, Carla Carducci, Claudia Carducci, Maria Alice Donati, Daniela Gueraldi, Sabrina Paci, Francesca Pochiero, Francesco Porta, Rita Ortolano, Valentina Rovelli, Maria Cristina Schiaffino, Marco Spada, Nenad Blau, Vincenzo Leuzzi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Beth L. Thurberg, George A. Diaz, Robin H. Lachmann, Thomas Schiano, Melissa P. Wasserstein, Allena J. Ji, Atef Zaher, M. Judith Peterschmitt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research

Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Saori Miwa, Ayako M. Watabe, Yohta Shimada, Takashi Higuchi, Hiroshi Kobayashi, Takahiro Fukuda, Fusao Kato, Hiroyuki Ida, Toya Ohashi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Simon A. Jones, Margaret McGovern, Olivier Lidove, Roberto Giugliani, Pramod K. Mistry, Carlo Dionisi-Vici, Maria-Veronica Munoz-Rojas, Lubomyra Nalysnyk, Alison D. Schecter, Melissa Wasserstein (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Publication date: Available online 16 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Barbara K. Burton, Nicola Longo, Jerry Vockley, Dorothy K. Grange, Cary O. Harding, Celeste Decker, Mingjin Li, Kelly Lau, Orli Rosen, Kevin Larimore, Janet Thomas, on behalf of the PAL-002 and PAL-004 Investigators (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 18, 2020 Category: Genetics & Stem Cells Source Type: research

A systematic cross-sectional survey of multiple sulfatase deficiency
Publication date: Available online 17 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Gerarda Cappuccio, Marianna Alagia, Nicola Brunetti-Pierri (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 18, 2020 Category: Genetics & Stem Cells Source Type: research

Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses
Publication date: Available online 11 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Simon A. Jones, Deborah Marsden, Tony Koutsoukos, Jennifer Sniadecki, Karen Tylee, Sarah Phillippo, Emil Kakkis (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 11, 2020 Category: Genetics & Stem Cells Source Type: research

Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis
Publication date: Available online 8 June 2020Source: Molecular Genetics and MetabolismAuthor(s): A. Crivaro, C. Bondar, J.M. Mucci, M. Ormazabal, R.A. Feldman, M.V. Delpino, P.A. Rozenfeld (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 10, 2020 Category: Genetics & Stem Cells Source Type: research

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued
Publication date: Available online 6 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Juan Politei (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 7, 2020 Category: Genetics & Stem Cells Source Type: research

Laboratory monitoring of patients with hereditary tyrosinemia type I
Publication date: Available online 6 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Matthew J. Schultz, Brian C. Netzel, Rani H. Singh, Gisele B. Pino, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Piero Rinaldo, Silvia Tortorelli, Wendy E. Smith, Dietrich Matern (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 7, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: July 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 7, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: July 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 7, 2020 Category: Genetics & Stem Cells Source Type: research

A pandemic will not stop metabolic innovation
Publication date: Available online 22 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Erin MacLeod, Danielle Starin, Nicholas Ah Mew, Debra S. Regier (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 23, 2020 Category: Genetics & Stem Cells Source Type: research

Aortic distensibility in alkaptonuria
Publication date: Available online 18 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Rashmi Thimmapuram, W. Patricia Bandettini, Sujata M. Shanbhag, Jeannie Yu, Kevin J. O'Brien, William A. Gahl, Wendy J. Introne, Marcus Y. Chen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 19, 2020 Category: Genetics & Stem Cells Source Type: research

Metabolomics in acute myeloid leukemia
Publication date: Available online 18 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Anna V. Wojcicki, Maya M. Kasowski, Kathleen M. Sakamoto, Norman Lacayo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 19, 2020 Category: Genetics & Stem Cells Source Type: research

The biochemical village: How it can flourish and thrive
Publication date: Available online 15 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Debra Regier (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 17, 2020 Category: Genetics & Stem Cells Source Type: research

Update from the SIMD President
Publication date: Available online 14 May 2020Source: Molecular Genetics and MetabolismAuthor(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 15, 2020 Category: Genetics & Stem Cells Source Type: research

Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model
Publication date: Available online 11 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ludovica Santi, Giada De Ponti, Giorgia Dina, Alice Pievani, Alessandro Corsi, Mara Riminucci, Shaukat Khan, Kazuki Sawamoto, Laura Antolini, Silvia Gregori, Andrea Annoni, Andrea Biondi, Angelo Quattrini, Shunji Tomatsu, Marta Serafini (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

Gaucher disease and SARS-CoV-2 infection: Emerging management challenges
Publication date: Available online 11 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Pramod Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, Heather Lau, Chung U. Lee, Grisel Lopez, Gustavo Maegawa, Seymour Packman, Carlos Prada, Barry Rosenbloom, Tamanna Roshan Lal, Rapheal Schiffmann, Neal Weinreb, Ellen Sidransky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 11, 2020 Category: Genetics & Stem Cells Source Type: research

Biochemical and anaplerotic applications of In Vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes
Publication date: Available online 11 May 2020Source: Molecular Genetics and MetabolismAuthor(s): M. Sol Collado, Allison J. Armstrong, Matthew Olson, Stephen A. Hoang, Nathan Day, Marshall Summar, Kimberly A. Chapman, John Reardon, Robert A. Figler, Brian R. Wamhoff (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 11, 2020 Category: Genetics & Stem Cells Source Type: research

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
Publication date: Available online 5 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Gawa Bidla, David Watkins, Céline Chéry, D. Sean Froese, Courtney Ells, Matin Karachian, Avi Saskin, Karen E. Christensen, Brian M. Gilfix, Jean-Louis Guéant, David S. Rosenblatt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 6, 2020 Category: Genetics & Stem Cells Source Type: research

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
Publication date: Available online 3 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ashlee R. Stiles, Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha S. Bali, Sarah P. Young (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 5, 2020 Category: Genetics & Stem Cells Source Type: research

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
Publication date: Available online 4 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ana Pop, Desirée E.C. Smith, Trevor Kirby, Dana Walters, K. Michael Gibson, Soufiane Mahmoudi, Silvy J.M. van Dooren, Warsha A. Kanhai, Matilde R. Fernandez-Ojeda, Eric J.M. Wever, Janet Koster, Hans R. Waterham, Bram Grob, Birthe Roos, Mirjam C. Wamelink, Justin Chen, Senthil Natesan, Gajja S. Salomons (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 5, 2020 Category: Genetics & Stem Cells Source Type: research

Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies
Publication date: Available online 1 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Kimitoshi Nakamura, Satoshi Kawashima, Hirotaka Tozawa, Mariko Yamaoka, Tatsuyoshi Yamamoto, Noboru Tanaka, Ryuji Yamamoto, Torayuki Okuyama, Yoshikatsu Eto (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 2, 2020 Category: Genetics & Stem Cells Source Type: research

The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function
Publication date: Available online 1 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Megan E. Beck, Yuxun Zhang, Sivakama S. Bharathi, Beata Kosmider, Karim Bahmed, Mary K. Dahmer, Lawrence M. Nogee, Eric S. Goetzman (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 2, 2020 Category: Genetics & Stem Cells Source Type: research

Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience
Publication date: Available online 29 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Sechi Annalisa, Macor Daniela, Valent Serena, Da Riol Rosalia Maria, Zanatta Manuela, Spinelli Alessandro, Bianchi Katja, Bertossi Nadia, Dardis Andrea, Valent Francesca, Scarpa Maurizio (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 29, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: June 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 29, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: May 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 17, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: May 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 17, 2020 Category: Genetics & Stem Cells Source Type: research

α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype
Publication date: Available online 10 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Thomas Wiesinger, Markus Schwarz, Thomas P. Mechtler, Sandra Liebmann-Reindl, Berthold Streubel, David C. Kasper (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 11, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: April 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 5, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: April 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 5, 2020 Category: Genetics & Stem Cells Source Type: research

Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease
Publication date: Available online 3 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Simon C. Johnson, Ernst-Bernhard Kayser, Rebecca Bornstein, Julia Stokes, Alessandro Bitto, Kyung Yeon Park, Amanda Pan, Grace Sun, Daniel Raftery, Matt Kaeberlein, Margaret M. Sedensky, Philip G. Morgan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 4, 2020 Category: Genetics & Stem Cells Source Type: research

Development of a neurologic severity scale for Aicardi Goutières Syndrome
Publication date: Available online 2 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Laura A. Adang, Francesco Gavazzi, Abbas F. Jawad, Stacy V. Cusack, Kimberly Kopin, Kyle Peer, Constance Besnier, Micaela De Simone, Valentina De Giorgis, Simona Orcesi, Elisa Fazzi, Jessica Galli, Justine Shults, Adeline Vanderver (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 4, 2020 Category: Genetics & Stem Cells Source Type: research

Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity
Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): André Lollert, Christian Hoffmann, Michael Lache, Jochem König, Miriam Brixius-Huth, Julia B. Hennermann, Christoph Düber, Gundula Staatz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 29, 2020 Category: Genetics & Stem Cells Source Type: research

Advances in glycosaminoglycan detection
Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Shaukat A. Khan, Robert W. Mason, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 29, 2020 Category: Genetics & Stem Cells Source Type: research

Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses
Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Ahmed Ayuna, Karolina M. Stepien, Christian J. Hendriksz, Matthew Balerdi, Anupam Garg, Peter Woolfson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 27, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: March 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 21, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: March 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 21, 2020 Category: Genetics & Stem Cells Source Type: research

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
Publication date: Available online 19 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Clément Pontoizeau, Célina Roda, Jean-Baptiste Arnoux, Patricia Vignolo-Diard, Anais Brassier, Florence Habarou, Valérie Barbier, Coraline Grisel, Marie-Thérèse Abi-Warde, Nathalie Boddaert, Alice Kuster, Aude Servais, Anna Kaminska, Carole Hennequin, Laurent Dupic, Fabrice Lesage, Guy Touati, Vassili Valayannopoulos, Bernadette Chadefaux-Vekemans, Mehdi Oualha (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 21, 2020 Category: Genetics & Stem Cells Source Type: research

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition
Publication date: Available online 19 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Friederike Häuser, Seyfullah Gökce, Gesa Werner, Sven Danckwardt, Stefanie Sollfrank, Carolin Neukirch, Vera Beyer, Julia B. Hennermann, Karl J. Lackner, Eugen Mengel, Heidi Rossmann (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 19, 2020 Category: Genetics & Stem Cells Source Type: research

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Publication date: Available online 6 March 2020Source: Molecular Genetics and MetabolismAuthor(s): KimberlyA. Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez-Ospina, Carlos O. Esquivel, Waldo Concepcion, Jacinda B. Sampson, David J. Cristin, Whitney E. Jackson, Samuel Gilliland, Elizabeth A. Pomfret, Michael L. Kueht, Rowland W. Pettit, Youmna A. Sherif, Lisa T. Emrick, Sarah H. Elsea, Ryan Himes, Michio Hirano, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 7, 2020 Category: Genetics & Stem Cells Source Type: research

Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII
Publication date: Available online 6 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Jaclyn Cadaoas, Gabrielle Boyle, Steven Jungles, Sean Cullen, Michel Vellard, Jeffrey H. Grubb, Agnieszka Jurecka, William Sly, Emil Kakkis (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 7, 2020 Category: Genetics & Stem Cells Source Type: research

Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C
Publication date: Available online 5 March 2020Source: Molecular Genetics and MetabolismAuthor(s): J.A. Cooper, H.J. Church, H.Y. Wu (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 5, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations
Publication date: Available online 21 February 2020Source: Molecular Genetics and MetabolismAuthor(s): Gabriella A. Horvath, Robert M. Stowe, Carlos R. Ferreira, Nenad BlauAbstractPsychiatric symptoms are common manifestations in many inborn errors of metabolism (IEMs), ranging from attention deficit, anxiety and mood and behavioral disorders to psychosis. Furthermore, IEMs represent a significant percentage of all autism cases. We reviewed and updated the list of metabolic disorders known to be associated with various psychiatric manifestations and found more than 100 relevant IEMs. This represents the third of a series o...
Source: Molecular Genetics and Metabolism - February 21, 2020 Category: Genetics & Stem Cells Source Type: research