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Elsevier

Inherited Metabolic Diseases and the Brain

  • 1 Edición - 1 de marzo de 2027
  • Última edición
  • Editores: Fanny Mochel, Robin Lachmann, Ángeles García Cazorla
  • Idioma: Inglés

Inherited Metabolic Diseases and the Brain explores the latest research on the neurological aspects of inherited metabolic diseases such as epilepsy, encephalotomy and more. With a… Leer más

Descripción

Inherited Metabolic Diseases and the Brain explores the latest research on the neurological aspects of inherited metabolic diseases such as epilepsy, encephalotomy and more. With a strong research driven foundation and clinical applications, this book provides a primer which will help practicing pediatric and adult neurologists recognize, diagnose and treat neurometabolic disorders. This volume will also present a number of more common disorders in more detail, describing the variability in clinical presentation, the life course of the disease and the intricacies of diagnosis and treatment.

Puntos claves

  • Highlights the wide range of clinical presentation of inherited metabolic diseases
  • Offers clinical applications on diagnosis and treatment
  • Explores the latest research on the effect of inherited metabolic diseases on the brain

De interès para

Researchers and clinicians in neuroscience and neurology

Índice

1. Introduction to Inherited Metabolic Diseases

2. Introduction to neurometabolism, from neonates to the elderly

3. Approaches to the Treatment of Neurometabolic Disorders

4. Metabolic forms of Early neurodevelopmental disorders

5. Intellectual disability

6. CP mimics

7. Motor disorders

8. Epilepsy

9. Encephalopathy

10. Psychiatric manifestations

11. White matter diseases

12. Peripheral neuropathy

13. Muscular disorders

14. Strokes and stroke-like

15. Neurosensorial deficits

16. Selected neurometabolic disorders

17. Mitochondrial diseases

18. Lysosomal diseases

19. X-Linked Adrenoleukodystrophy

20. CBS and remethylation disorders

21. Phenylketonuria

22. Wilson Disease

23. Cerebrotendinous xanthomatosis

24. Glut1 deficiency

25. L-Dopa responsive diseases

Detalles del producto

  • Edición: 1
  • Última edición
  • Publicado: 1 de marzo de 2027
  • Idioma: Inglés

Sobre los editores

FM

Fanny Mochel

Fanny Mochel is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Triheptanoin. The author has co-authored over 150. She was previously a professor at the University of Rostock & the University of Minnesota.
Afiliaciones y experiencia
Academic Researcher, University of Paris, France

RL

Robin Lachmann

Dr Lachmann trained in the UK in General Internal Medicine and Metabolic Medicine. His interest in genetic disease led to a PhD and postdoctoral work on developing viral vectors for gene delivery to the brain. He moved to his current post at UCLH in 2005. He leads a multidisciplinary team looking after adults with inherited metabolic diseases. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation and National Specialty Advisor for Metabolic Disorders to the English National Health Service.
Afiliaciones y experiencia
University College London, UK

ÁC

Ángeles García Cazorla

Dr García-Cazorla received her M.D. from the University of Barcelona Medical School and obtained a Pediatrics degree and a PhD (European Doctorate) in medicine at the “Universitat Autonoma de Barcelona”.

She did her predoctoral training in inborn errors of metabolism at Hôpital Necker (Paris), and a post-doctoral research fellowship in the department of Neurology at Columbia University (New York). She is currently the coordinator of the Inborn Errors of Metabolism Unit at Hospital Sant Joan de Deu in Barcelona.

Afiliaciones y experiencia
Coordinator, Hospital Sant Joan de Deu, Barcelona, Spain