Molecular analysis of the human placental cysteine dioxygenase type 1 gene

by Paul A. Dawson, Shalini J. Weerasekera, Ranita J. Atcheson, Sarah A. Twomey, David G. Simmons
Published 2020-03-01

Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats

by Juliette Janson, Gudrun Andersson, Lars Bergquist, Maria Eriksson, Joost H.A. Folgering
Published 2020-03-01

Newborn screening for Fabry disease in the western region of Japan

by Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura
Published 2020-03-01

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

by Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt
Published 2020-06-01

Progressive macrophage accumulation in lysosomal acid lipase deficiency

by Patryk Lipiński, Joanna Cielecka-Kuszyk, Anna Bożkiewicz-Kasperczyk, Barbara Perkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska
Published 2020-06-01

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

by Carlos A. Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O. Jones, Ann Moser, Michael F. Wangler
Published 2015-12-01

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

by Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue
Published 2018-09-01

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

by Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu
Published 2018-09-01

Benefits of prophylactic heme therapy in severe acute intermittent porphyria

by Pradeep Yarra, Denise Faust, Mary Bennett, Sean Rudnick, Herbert L. Bonkovsky
Published 2019-06-01

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease

by Harrison N. Jones, Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, Priya S. Kishnani
Published 2020-06-01

Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

by Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson
Published 2020-06-01

Liver involvement in patients with Gaucher disease types I and III

by Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Alícia Dorneles Dornelles, Suélen Porto Basgalupp, Marina Siebert, Maria Lúcia Alves Pedroso, Carlos Thadeu Schmidt Cerski, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz
Published 2020-03-01

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

by J.B. Eisengart, K.E. King, E. Shapiro, C.B. Whitley, J. Muenzer
Published 2020-03-01

Cognitive functioning in mild hyperphenylalaninemia

by Alicia de la Parra, María Ignacia García, Susan E. Waisbren, Verónica Cornejo, Erna Raimann
Published 2015-12-01

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation

by Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff
Published 2020-06-01

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification

by Nicole Ducich, Nicholas Ah Mew, Jirair K. Bedoyan
Published 2020-06-01

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

by Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund
Published 2020-06-01

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

by Beth L. Thurberg
Published 2020-09-01

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

by Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Published 2020-09-01

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

by Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg
Published 2020-09-01