Sage Journals: Discover world-class research

Free access

Research article

First published 2002-8

Supporting Genotype-Phenotype Correlation with the Rare Metabolic Diseases Database Ramedis

Thoralf Töpel, Uwe Scholz, Ulrike Mischke [...]

In Silico Biology

Free access

Research article

First published 2013-3

The Treatment of Wilson's Disease,a Rare Genetic Disorder of Copper Metabolism

Rupert Purchase

Science Progress

Free access

Case report

First published 2007-03

A rare case of metabolic bone disease

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted access

Research article

First published 2019-5

Finding the Needle in a Metabolic Haystack: Omics-based Method Identifies Causes of Rare Metabolic Diseases in Children

Julianna LeMieux

Inside Precision Medicine

Free access

Case report

First published 2024-1

Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report

Hemang P Doshi, Hemal H Vachharajani, Michael C Tchan [...]

Anaesthesia and Intensive Care

Open access

Research article

First published 2018-12-20

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

Retricted access

Other

First published 2010-6

Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes,Posterior Column Spinal Degeneration,and Multi-Endocrine Disease

Sarah E. Hopkins, Arthur Somoza, Donald L. Gilbert

Journal of Child Neurology

Open access

Research article

First published 2016-8-26

Gene therapy for metabolic diseases

Randy J. Chandler, Charles P. Venditti

Translational Science of Rare Diseases

Open access

Review article

First published 2017

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

Janet Thomas, Mina Nguyen-Driver, Heather Bausell [...]

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 2026

Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA

Loai A. Shakerdi, Halima Mshelia, Abrar Al Zaher [...]

Obstetric Medicine

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