Results 301 to 310 of about 38,522 (353)
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The Endocrinologist, 1966
This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
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This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
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Annals of Neurology, 1982
AbstractInborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult‐onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay‐Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux‐Lamy disease.
William J. L. Cable, Edwin H. Kolodny
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AbstractInborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult‐onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay‐Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux‐Lamy disease.
William J. L. Cable, Edwin H. Kolodny
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2012
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
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Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
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2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Carlos Ferreira +2 more
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Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Carlos Ferreira +2 more
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Inborn Errors of Metabolism [PDF]
Pediatrics In Review, 1980 Around the turn of the century Garrard established the concept of an inborn error of metabolism using his study on alcaptonuria to exemplify his hypothesis that a considerable number of metabolic disorders with clearly defined clinical, pathologic, and biochemical abnormalities arise because an enzyme governing a single metabolic step is either reduced
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Pediatric Annals, 1990
Because of our knowledge of their biochemical bases, the inborn errors of their biochemical bases, the inborn errors of metabolism have been especially amenable to specifically designed modes of therapy.
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Because of our knowledge of their biochemical bases, the inborn errors of their biochemical bases, the inborn errors of metabolism have been especially amenable to specifically designed modes of therapy.
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Pediatrics, 1987
To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases.
T E, Wiswell, M E, Weisse
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To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases.
T E, Wiswell, M E, Weisse
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JAMA, 1960
"Inborn Errors of Metabolism" presents the physician with a concise, easily understood, and practical approach to the problem of diagnosis of hereditary disease. Metabolic errors are discussed in the framework of five major divisions: (1) Disturbances in molecular structure—the hemoglobin variants are the major members of this group at the present time.
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"Inborn Errors of Metabolism" presents the physician with a concise, easily understood, and practical approach to the problem of diagnosis of hereditary disease. Metabolic errors are discussed in the framework of five major divisions: (1) Disturbances in molecular structure—the hemoglobin variants are the major members of this group at the present time.
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Clinics in Perinatology, 2015
Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a
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Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a
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