Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria

by Donald H. Chace PhD, William H. Hannon PhD
Published 2016-10-01

Cardiac Manifestation of Fabry Disease

by Adrián Fernández MD, Juan Politei MD
Published 2016-07-01

New Aspects of LSD

by Michael Beck
Published 2016-12-01

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

by Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD
Published 2017-01-01

Advances in Mitochondrial Medicine

by Gregory M. Enns MB, ChB
Published 2018-01-01

Potential Therapeutic Targets of the Endocannabinoid System in Common Neurodegenerative Disorders and Organic Acidemias

by Gabriela Aguilera MSc, Abel Santamaria PhD
Published 2017-08-01

The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and German...

by Angela Schulz, Mohit Jain, Thomas Butt, Rachel Ballinger, Lina Eliasson, Jake Macey, Tessa Peasgood, Andrew Olaye, Irini-Alexia Terzakis-Snyder, Iris Dyck, Andrea West

Folate and Cancer

by Luciana Yuki Tomita PhD
Published 2016-07-01

Dermatologic Aspects of Fabry Disease

by Paula C. Luna MD, Paula Boggio MD, Margarita Larralde MD, PhD
Published 2016-09-01

Homocysteine and Psychiatric Disorders

by Vanessa Cavalcante da Silva PhD, Allan Chiaratti de Oliveira MD, Vânia D’Almeida PhD
Published 2017-03-01

Small Fiber Neuropathy in Fabry Disease: a Review of Pathophysiology and Treatment

by Juan M. Politei MD, Consuelo Durand MD, Andrea B. Schenone MD
Published 2016-07-01

Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)

by Johanna Acosta Guio MD, Gustavo AdolfoGiraldo-Ospina MD
Published 2017-07-01

Beta-Ketothiolase Deficiency

by Elsayed Abdelkreem MD, MSc, Hiroki Otsuka MD, Hideo Sasai MD, Yuka Aoyama PhD, Tomohiro Hori MD, PhD, Mohamed Abd El Aal MD, PhD, Shaimaa Mahmoud MD, PhD, Toshiyuki Fukao MD, PhD
Published 2016-03-01

BOOK OF ABSTRACTS - X Latin American Congress of Inborn Errors of Metabolism and Neonatal Screening

Published 2015-11-01

Late Diagnosis of Fanconi-Bickel Syndrome

by Nirupama Gupta MD, Bimota Nambam MD, David A. Weinstein MD, MMSc, Lawrence R. Shoemaker MD
Published 2016-11-01

Hepatic Glycogen Storage Diseases

by Terry G. J. Derks MD, PhD, Antal Nemeth MD, PhD, Katrin Adrian MD, PhD, Henrik Arnell MD, PhD, Ann Bech Roskjær RD, Eva Beijer MD, Sebastiaan te Boekhorst BICT, Carina Heidenborg RD, Marcus Landgren MD ,PhD, Mikael Nilsson RD, Domniki Papadopoulou MD, Katalin Ross RD, Elisabeth Sjöqvist RD, U Stachelhaus-Theimer MD, Ulrike Steuerwald MD, Carl-Johan Törnhage MD, PhD, David A. Weinstein MD, PhD
Published 2017-09-01

Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy

by Claudia B. Catarino MD, PhD, Thomas Klopstock MD
Published 2017-09-01

Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic

by Janet Thomas MD, Mina Nguyen-Driver PsyD, Heather Bausell RD, LDN, Jane Breck MD, Javier Zambrano MD, Vanessa Birardi PharmD
Published 2017-09-01

Micronutrients

by Peter T. Clayton MD, Philippa B. Mills PhD
Published 2018-03-01

Lysosomes, Lysosomal Storage Diseases, and Inflammation

by Calogera M. Simonaro PhD
Published 2016-05-01