A Survey of Some Hereditary Metabolic Diseases
نویسندگان
چکیده
منابع مشابه
A 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...
متن کاملProblems in the chemical diagnosis of some hereditary metabolic diseases.
MODERN GENETICIST and his genetically oriented colleagues in 1Thi#{246}#{227}I medicine and biochemistry now believe that all inherited metabolic variations arise from alterations in the biochemical composition of the organism; it is assumed that these alterations are the direct result of variations in the gene or genes which determine the synthesis of a specific protein molecule. Some well-kno...
متن کاملNeurology 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 کاملEchocardiographic findings in some metabolic storage diseases.
This study was planned to determine the presence and extent of cardiac involvement in metabolic storage diseases, including types I and II glycogenoses, Gaucher and Neimann-Pick diseases, galactosialidosis and mucopolysaccharidosis. M-mode, 2-dimensional and Doppler echocardiographic studies were used for the determination of left ventricular wall thickness, systolic function, anatomic derangem...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1960
ISSN: 0032-5473
DOI: 10.1136/pgmj.36.418.486