inherited metabolic disease Recently Published Documents

Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2021.03.008 ◽

2021 ◽

Author(s):

Gabriella A. Horvath ◽

Nenad Blau ◽

Carlos R. Ferreira

Keyword(s):

Metabolic Disease ◽

Cerebral Palsy ◽

Appraisal of the use of FASTEX in clinical practice in the All Wales Inherited Metabolic Disease Service

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2020.12.029 ◽

2021 ◽

Vol 132 (2) ◽

pp. S21

Author(s):

Lindsey Bulleid ◽

Amanda Daniel ◽

Duncan Cole

Keyword(s):

Metabolic Disease ◽

Clinical Practice ◽

Liver transplant for inherited metabolic disease among siblings

Clinical Transplantation ◽

10.1111/ctr.14090 ◽

2020 ◽

Vol 34 (11) ◽

Author(s):

Patrick J. McKiernan ◽

James E. Squires ◽

Robert H. Squires ◽

Jerry Vockley ◽

George V. Mazariegos ◽

...

Keyword(s):

Metabolic Disease ◽

Liver Transplant ◽

The role of the Clinical Chemistry laboratory in facilitating earlier diagnosis of dyslipidaemia-associated inherited metabolic disease

Journal of Clinical Pathology ◽

10.1136/jclinpath-2019-206254 ◽

2020 ◽

Vol 73 (7) ◽

pp. 363-365

Author(s):

Janice LV Reeve ◽

Patrick J Twomey ◽

Ingrid Borovickova

Keyword(s):

Metabolic Disease ◽

Clinical Chemistry ◽

Chemistry Laboratory ◽

Clinical Chemistry Laboratory

Mgta-456 Cell Therapy in Inherited Metabolic Disease (IMD) Yields Rapid and Durable Long-Term Improvement of Disease-Specific Outcomes in a Phase 2 Trial

Biology of Blood and Marrow Transplantation ◽

10.1016/j.bbmt.2019.12.084 ◽

2020 ◽

Vol 26 (3) ◽

pp. S19 ◽

Cited By ~ 1

Author(s):

Paul J. Orchard ◽

Glen D. Raffel ◽

Carolyn E.H. Condon ◽

Jennifer A. Braun ◽

Ryan Shanley ◽

...

Keyword(s):

Metabolic Disease ◽

Cell Therapy ◽

Phase 2 ◽

Phase 2 Trial ◽

Disease Specific

Inherited Metabolic Disease and Sudden Unexplained Death in Infancy and Childhood: Post-mortem Samples and Investigations

Investigation of Sudden Infant Death Syndrome ◽

10.1017/9781108186001.018 ◽

2019 ◽

pp. 116-126

Author(s):

Simon E. Olpin

Keyword(s):

Metabolic Disease ◽

Post Mortem ◽

Sudden Unexplained Death ◽

Unexplained Death ◽

Infancy And Childhood

Inherited Metabolic Disease and Sudden Unexplained Death in Infancy and Childhood: Pathophysiology

Investigation of Sudden Infant Death Syndrome ◽

10.1017/9781108186001.034 ◽

2019 ◽

pp. 211-218

Author(s):

Simon E. Olpin

Keyword(s):

Metabolic Disease ◽

Sudden Unexplained Death ◽

Unexplained Death ◽

Infancy And Childhood

Cardiac manifestations of inherited metabolic disease linked to cellular vitamin B12 (cobalamin) uptake: Study in murine model of invalidation of Mtr gene in the heart

Archives of Cardiovascular Diseases Supplements ◽

10.1016/j.acvdsp.2019.02.131 ◽

2019 ◽

Vol 11 (2) ◽

pp. 242

Author(s):

V.J. Kosgei ◽

C. Arnold ◽

F. Elkhafifi ◽

P. Lacolley ◽

S. Hergalant ◽

...

Keyword(s):

Metabolic Disease ◽

Vitamin B12 ◽

Murine Model ◽

Uptake Study ◽

Cardiac Manifestations

Journal of Inherited Metabolic Disease

10.1002/(issn)1573-2665 ◽

2019 ◽

Keyword(s):

Metabolic Disease ◽