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Molecular Genetics and Metabolism

Resumen/Descripción – provisto por la editorial en inglés

Molecular Genetics and Metabolism is a contribution to the understanding of the metabolic basis of disease. The journal publishes articles describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, occasional minireviews reporting timely advances as well as brief communications and letters to the editor are considered.

Research Areas include:

• Inherited Metabolic Diseases:
- Biochemical studies of primary enzyme defects
- Molecular genetic analyses of mutations
- Pathogenesis of these disorders, including not only primary but also secondary metabolic alterations
• Systems Biology:
- Functional integration of biochemical network modules
- Moonlighting functions of proteins
• Intercellular and Intracellular Metabolic Relationships:
- Biochemical interactions between cells
- Functional roles of and interactions between subcellular compartments and distinct regions within these cellular spaces, termed microcompartments
- Metabolic relations between individual enzymes and pathways
• Cellular Catalysts:
- Protein and nonprotein catalyst in normal and deranged cellular metabolism
- Relationships between the structure and function of catalytic molecules
- Interaction of these catalysts with other cellular components
• Disease Pathogenesis:
- Underlying mechanisms of inherited and acquired diseases
- Relationships between genotype and phenotype at the biochemical and molecular levels
• Treatment:
- Drug, protein and dietary interventions
- Transplantation and gene therapy
- Multicenter clinical trials

Advances in nanomedicine, nanopediatrics and nanotechnology are also welcome.

Palabras clave – provistas por la editorial

No disponibles.

Disponibilidad

Institución detectada	Período	Navegá	Descargá	Solicitá
No detectada	desde ene. 1998 / hasta dic. 2023	ScienceDirect

Información

Tipo de recurso:

revistas

ISSN impreso

1096-7192

ISSN electrónico

1096-7206

Editor responsable

Elsevier

País de edición

Estados Unidos

Fecha de publicación

1998-

Cobertura temática

Ciencias biológicas

Medicina clínica

Tabla de contenidos

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doi: 10.1016/s1096-7192(03)00136-7

Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

R Froissart

Pp. 307-314

doi: 10.1016/j.ymgme.2004.04.011

Neuropathology provides clues to the pathophysiology of Gaucher disease

Kondi Wong; Ellen Sidransky; Ajay Verma; Tonghui Mixon; Glenn D Sandberg; Laura K Wakefield; Alan Morrison; Alicia Lwin; Carlos Colegial; John M Allman; Raphael Schiffmann

Pp. 192-207

doi: 10.1016/j.ymgme.2010.04.010

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Helen A.L. Tuppen; Janev Fehmi; Birgit Czermin; Paola Goffrini; Francesca Meloni; Iliana Ferrero; Langping He; Emma L. Blakely; Robert McFarland; Rita Horvath; Douglass M. Turnbull; Robert W. Taylor

Palabras clave: Endocrinology; Genetics; Molecular Biology; Biochemistry; Endocrinology, Diabetes and Metabolism.

Pp. 345-348

doi: 10.1016/j.ymgme.2011.07.014

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

Arnold J. Reuser; Frans W. Verheijen; Deeksha Bali; Otto P. van Diggelen; Dominique P. Germain; Wuh-Liang Hwu; Zoltan Lukacs; Adolf Mühl; Petra Olivova; Monique Piraud; Birgit Wuyts; Kate Zhang; Joan Keutzer

Palabras clave: Genetics; Biochemistry; Molecular Biology; Endocrinology, Diabetes and Metabolism; Endocrinology.

Pp. 144-148

doi: 10.1016/j.ymgme.2011.12.013

Sample blank subtraction outreachs hemoglobin interferences in flurorometric methods for DBS

Eser Y. Sozmen

Pp. 530

doi: 10.1016/j.ymgme.2013.04.008

Differences between acylcarnitine profiles in plasma and bloodspots

Monique G.M. de Sain-van der Velden; Eugene F. Diekman; Judith J. Jans; Maria van der Ham; Berthil H.C.M.T. Prinsen; Gepke Visser; Nanda M. Verhoeven-Duif

Palabras clave: Endocrinology; Genetics; Molecular Biology; Biochemistry; Endocrinology, Diabetes and Metabolism.

Pp. 116-121

doi: 10.1016/j.ymgme.2014.12.067

Fabry disease: The α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism

Robert J. Desnick; Dana O. Doheny; Brenden Chen; Chunli Yu; Irina Nazarenko; Beomhee Lee; Andrea M. Atherton; Rachel Montel; Asha Singh; Senkottuvelan Kadirvel

Palabras clave: Endocrinology; Genetics; Molecular Biology; Biochemistry; Endocrinology, Diabetes and Metabolism.

Pp. S37

doi: 10.1016/j.ymgme.2014.08.007

Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Linda van der Tol; Einar Svarstad; Alberto Ortiz; Camilla Tøndel; João Paulo Oliveira; Liffert Vogt; Stephen Waldek; Derralynn A. Hughes; Robin H. Lachmann; Wim Terryn; Carla E. Hollak; Sandrine Florquin; Marius A. van den Bergh Weerman; Christoph Wanner; Michael L. West; Marieke Biegstraaten; Gabor E. Linthorst

Pp. 242-247

doi: 10.1016/j.ymgme.2017.08.004

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Andrew Talbot; Kathy Nicholls; Janice M. Fletcher; Maria Fuller

Pp. 121-125

doi: 10.1016/j.ymgme.2018.06.007

Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease

Matthew C. Reed; Capucine Schiffer; Simon Heales; Atul B. Mehta; Derralynn A. Hughes

Pp. 278-286