Neurology of Hereditary Metabolic Diseases of Children
نویسندگان
چکیده
منابع مشابه
Neurology of Hereditary Metabolic Diseases of Children
This is a fine introductory text to the field of neuroradiology. The title of the book is appropriate; this work is neither too exhaustive nor too brief. We believe that the basic objectives of this work have been met: namely, a good medium-sized textbook for radiology, neurology, and neurosurgery residents. The volume will also be useful for other physicians as well as medical students interes...
متن کاملOutline of metabolic diseases in adult neurology.
INTRODUCTION Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerativ...
متن کاملChild neurology: hereditary spastic paraplegia in children.
S.T. de Bot, MD B.P.C. van de Warrenburg, MD, PhD H.P.H. Kremer, MD, PhD M.A.A.P. Willemsen, MD, PhD Because the medical literature on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of HSP. The differential diagnosis of progressive spastic paraplegia strongly depends on the age ...
متن کاملA survey of some hereditary metabolic diseases.
It has been recognized for many years that there are a few entities in which a characteristic combination of clinical and chemical abnormalities is genetically transmitted. The number of diseases and apparently harmless metabolic anomalies which have been recognized as belonging to this group has increased considerably since Garrod in 190225 described alkaptonuria as an ' inborn metabolic error...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1984
ISSN: 0022-3050
DOI: 10.1136/jnnp.47.10.1151-b