Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe by Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

Get full text

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway by Maria Savino, Claudio Carmine Guida, Maria Nardella, Emanuele Murgo, Bartolomeo Augello, Giuseppe Merla, Salvatore De Cosmo, Antonio Fernando Savino, Roberto Tarquini, Francesco Cei, Filippo Aucella, Gianluigi Mazzoccoli

“…Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias. Protein levels and activity of enzymes involved in the heme biosynthetic pathway and especially 5′-Aminolevulinate Synthase 1 are featured by 24-h rhythmic oscillations driven by the biological clock. …”
Get full text

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis by Abdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, Bénédicte Héron, Monique Piraud, Jérôme Ausseil, Farid Zerimech, Bruno Gonzalez, Stéphane Marret, Carlos Afonso, Soumeya Bekri

“…This approach has not been widely used to explore inherited metabolic diseases. This study investigates mucopolysaccharidosis type III (MPS III). …”
Get full text

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

Get full text

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis by Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni

Get full text

The complete European guidelines on phenylketonuria: diagnosis and treatment by A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter, F. J. van Spronsen

Get full text

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers by Moritz Ilan Truninger, Helene Werner, Markus Andreas Landolt, Andreas Hahn, Julia B. Hennermann, Florian B. Lagler, Dorothea Möslinger, Charlotte Pfrimmer, Marianne Rohrbach, Martina Huemer

Get full text

Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study by Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

Get full text

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders by Takuma Yamamoto, Hiroyuki Mishima, Hajime Mizukami, Yuki Fukahori, Takahiro Umehara, Takehiko Murase, Masamune Kobayashi, Shinjiro Mori, Tomonori Nagai, Tatsushige Fukunaga, Seiji Yamaguchi, Koh-ichiro Yoshiura, Kazuya Ikematsu

“…The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. …”
Get full text

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases. by Maria Paola Belfiore, Francesca Iacobellis, Emma Acampora, Martina Caiazza, Marta Rubino, Emanuele Monda, Maria Rosaria Magaldi, Antonietta Tarallo, Marcella Sasso, Valeria De Pasquale, Roberto Grassi, Salvatore Cappabianca, Paolo Calabrò, Simona Fecarotta, Salvatore Esposito, Giovanni Esposito, Antonio Pisani, Luigi Michele Pavone, Giancarlo Parenti, Giuseppe Limongelli

“…INTRODUCTION:Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. …”
Get full text

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon by Rose T. Daher, Katia El Taoum, Jinane Samaha, Pascale E. Karam

Get full text

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019) by Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Shuan-Pei Lin

“…Abstract Background Mucopolysaccharidoses (MPSs) are a group of inherited metabolic diseases, which are characterized by the accumulation of glycosaminoglycans, and eventually lead to the progressive damage of various tissues and organs. …”
Get full text

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement by Matteo Paoletti, Anna Pichiecchio, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Fabio Maria Triulzi, Claudia Cinnante

Get full text

Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study by Yajie Su, Yaqiong Wang, Jinfeng He, Huijun Wang, Xian A, Haili Jiang, Wei Lu, Wenhao Zhou, Long Li

Get full text

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study by Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou

Get full text

A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing by Yanjun Wang, Juan He, Fangling Dong, Weihua Shou, Xingxing Feng, Ya Yang, Cuifen Li, Jingjing Wang, Bin Li, Shufang Xiao

“…The metabolic profiles of amino acids in blood, acylcarnitine in blood and organic acids in urine were used to determine the presence of inherited metabolic diseases. Genetic variations in the family were investigated using whole-exome sequencing and Sanger sequencing. …”
Get full text

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey by Li Liu, Chunlin Jin, Ying Chen, Lin Zhu, Aihua Zhang, Feihong Luo, Zhenqing Tang, Jiahao Hu, Dingguo Li, Qi Kang

Get full text

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey by Eleonore M. Corazolla, Eline C. B. Eskes, Jorien Veldwijk, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

Get full text

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic by Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews

“…Abstract Background Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects are a group of inherited metabolic diseases. We performed a retrospective cohort study to report on the phenotypic and genotypic spectrum of mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects as well as their treatment outcomes. …”
Get full text

Better understanding the phenotypic effects of drugs through shared targets in genetic disease networks by Elena Díaz-Santiago, Aurelio A. Moya-García, Jesús Pérez-García, Raquel Yahyaoui, Raquel Yahyaoui, Christine Orengo, Florencio Pazos, James R. Perkins, James R. Perkins, James R. Perkins, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea

Get full text