Inherited Metabolic Diseases and the Brain
- 1st Edition - March 1, 2027
- Latest edition
- Editors: Fanny Mochel, Robin Lachmann, Ángeles García Cazorla
- Language: English
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… Read more
Description
Description
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.
Key features
Key features
- 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
Readership
Readership
Researchers and clinicians in neuroscience and neurology
Table of contents
Table of contents
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
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
Product details
Product details
- Edition: 1
- Latest edition
- Published: March 1, 2027
- Language: English
About the editors
About the editors
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.
Affiliations and expertise
Academic Researcher, University of Paris, FranceRL
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.
Affiliations and expertise
University College London, UKÁC
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.
Affiliations and expertise
Coordinator, Hospital Sant Joan de Deu, Barcelona, Spain