Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria

by Alberto Burlina, Chiara Cazzorla, Elisa Zanonato, Emanuela Viggiano, Ilaria Fasan, Giulia Polo
Published 2016-09-01

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

by Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Published 2019-06-01

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

by A. Moghe, V.M.S. Ramanujam, J.D. Phillips, R.J. Desnick, K.E. Anderson
Published 2019-06-01

Corrective effects of hepatotoxicity by hepatic Dyrk1a gene delivery in mice with intermediate hyperhomocysteinemia

by Alizée Latour, Sacha Salameh, Christel Carbonne, Fabrice Daubigney, Jean-Louis Paul, Micheline Kergoat, Valérie Autier, Jean-Maurice Delabar, Bart De Geest, Nathalie Janel
Published 2015-03-01

Biomarkers in patients with mucopolysaccharidosis type II and IV

by Honoka Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W. Mason, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Published 2019-06-01

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heteroz...

by Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Published 2015-03-01

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels

by Bruna Donida, Desirèe P. Marchetti, Carlos Eduardo Diaz Jacques, Graziela Ribas, Marion Deon, Paula Manini, Helen Tais da Rosa, Dinara Jaqueline Moura, Jenifer Saffi, Roberto Giugliani, Carmen Regla Vargas
Published 2017-06-01

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

by Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck, Simon K. Law, Lorena Magraner-Pardo, Tirso Pons, Roman Polishchuck, Nicola Brunetti-Pierri
Published 2019-12-01

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

by Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. Zenteno
Published 2019-12-01

A rare case of Niemann–Pick disease type C without neurological involvement in a 66-year-old patient

by C.R. Greenberg, J.G. Barnes, S. Kogan, L.E. Seargeant
Published 2015-06-01

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

by Elsa G. Shapiro, Kyle Rudser, Alia Ahmed, Robert D. Steiner, Kathleen A. Delaney, Brianna Yund, Kelly King, Alicia Kunin-Batson, Julie Eisengart, Chester B. Whitley
Published 2016-06-01

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

by Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, Laura Masuelli, Barbara Tavazzi, Davide Mei, Flavia Giannotti, Renzo Guerrini, Vincenzo Leuzzi
Published 2019-12-01

The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa

by Rena C. Baek, Rachel Palmer, Robert J. Pomponio, Yuefeng Lu, Xiwen Ma, Alison J. McVie-Wylie
Published 2016-09-01

Fabry disease. A potential pitfall A family with a novel intronic mutation

by Gustavo Cabrera, Fernando Perretta
Published 2018-12-01

Fabry disease in a Japanese population-molecular and biochemical characteristics

by Hitoshi Sakuraba, Takahiro Tsukimura, Tadayasu Togawa, Toshie Tanaka, Tomoko Ohtsuka, Atsuko Sato, Tomoko Shiga, Seiji Saito, Kazuki Ohno
Published 2018-12-01

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

by Mohamed H. Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Mohamed S. Alamoudi, Eissa Faqeih, Majid Alfadhel, Ali Al-Asmari, M.M. Saleh, Fuad Almutairi, Nabil Moghrabi, Moeenaldeen AlSayed
Published 2019-03-01

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

by Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Published 2019-03-01

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

by Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg
Published 2019-03-01

Withdrawn Article

by Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen Sweadner, Kevin X. Liu, Chrystal Mavros, Niklas Smedemark-Margulies, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Published 2019-03-01

Reproductive experience of women living with phenylketonuria

by Suzanne Ford, Mike O'Driscoll, Anita MacDonald
Published 2018-12-01