Results 321 to 330 of about 36,711 (394)
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, 1967
A new inborn error of metabolism characterized by severe metabolic acidosis, polyuria, dehydration, emaciation and the urinary excretion of large amounts of methylmalonic acid is described.
O. Stokke +4 more
semanticscholar +1 more source
A new inborn error of metabolism characterized by severe metabolic acidosis, polyuria, dehydration, emaciation and the urinary excretion of large amounts of methylmalonic acid is described.
O. Stokke +4 more
semanticscholar +1 more source
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
openaire +3 more sources
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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, 1967
Three adult sisters with a new inborn error in lipid metabolism have been studied. They had an almost complete lack of esterified cholesterol in plasma, and a high concentration of plasmafree cholesterol.
K. Norum, E. Gjone
semanticscholar +1 more source
Three adult sisters with a new inborn error in lipid metabolism have been studied. They had an almost complete lack of esterified cholesterol in plasma, and a high concentration of plasmafree cholesterol.
K. Norum, E. Gjone
semanticscholar +1 more source
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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Journal of Obstetrics and Gynaecology Research, 2010
A microassay method for early prenatal diagnosis of inborn error of metabolism using cultured amniotic cells was developed and Fabry's disease was diagnosed prenatally.
Osamu Tsutsumi +5 more
semanticscholar +1 more source
A microassay method for early prenatal diagnosis of inborn error of metabolism using cultured amniotic cells was developed and Fabry's disease was diagnosed prenatally.
Osamu Tsutsumi +5 more
semanticscholar +1 more source
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
openaire +3 more sources
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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New England Journal of Medicine, 1984
We describe an inborn error of vitamin B12 metabolism in an infant who had severe developmental delay, megaloblastic anemia, and homocystinuria. There was no evidence of methylmalonic aciduria or deficiency of folate or vitamin B12.
S. Schuh +6 more
semanticscholar +1 more source
We describe an inborn error of vitamin B12 metabolism in an infant who had severe developmental delay, megaloblastic anemia, and homocystinuria. There was no evidence of methylmalonic aciduria or deficiency of folate or vitamin B12.
S. Schuh +6 more
semanticscholar +1 more source