Molecular Genetics and Metabolism Reports This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 7, 2021 Category: Genetics & Stem Cells Source Type: research

Reduced macular thickness and macular vessel density in early-treated adult patients with PKU
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Csilla Serfozo, Andras Gellert Barta, Endre Horvath, Csaba Sumanszki, Bela Csakany, Miklos Resch, Zoltan Zsolt Nagy, Peter Reismann (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 6, 2021 Category: Genetics & Stem Cells Source Type: research

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 1, 2021 Category: Genetics & Stem Cells Source Type: research

A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): L.R. Ranganath, A.M. Milan, A.C. Bay-Jensen, C.S. Thudium (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 30, 2021 Category: Genetics & Stem Cells Source Type: research

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 30, 2021 Category: Genetics & Stem Cells Source Type: research

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 27, 2021 Category: Genetics & Stem Cells Source Type: research

Adult GAMT deficiency: A literature review and report of two siblings
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 27, 2021 Category: Genetics & Stem Cells Source Type: research

PKU and COVID19: How the pandemic changed metabolic control
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 24, 2021 Category: Genetics & Stem Cells Source Type: research

Long term follow-up of the dietary intake in propionic acidemia
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): A. Mobarak, S. Stockler, R. Salvarinova, C. Van Karnebeek, G. Horvath (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 20, 2021 Category: Genetics & Stem Cells Source Type: research

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, Mayu Ooi, Yuichi Okata, Yuko Bitoh, Satoshi Mizobuchi, Kazumoto Iijima (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 20, 2021 Category: Genetics & Stem Cells Source Type: research

Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Ryuji Yamamoto, Eiji Yoden, Noboru Tanaka, Masafumi Kinoshita, Atsushi Imakiire, Tohru Hirato, Kohtaro Minami (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 19, 2021 Category: Genetics & Stem Cells Source Type: research

Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol
Publication date: Available online 15 April 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Aquilino Sánchez-Purificación, Aránzazu Castellano, Belén Gutiérrez, Marta Gálvez, Beatriz Díaz, Tamara Pérez, Francisco Arnalich (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 16, 2021 Category: Genetics & Stem Cells Source Type: research

Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid
Publication date: Available online 14 April 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Kelly T. Powers, Jonathan D. Santoro (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 15, 2021 Category: Genetics & Stem Cells Source Type: research

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 13, 2021 Category: Genetics & Stem Cells Source Type: research

Molecular basis of ventricular arrhythmogenicity in a Pgc-1α deficient murine model
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Khalil Saadeh, Karan R. Chadda, Shiraz Ahmad, Haseeb Valli, Nakulan Nanthakumar, Ibrahim T. Fazmin, Charlotte E. Edling, Christopher L.-H. Huang, Kamalan Jeevaratnam (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 9, 2021 Category: Genetics & Stem Cells Source Type: research