Results 221 to 230 of about 167,642 (275)

Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital. [PDF]

JIMD Rep
Spolador GM, Bueno C, Polastrini RTV, Zoboli I, Henrique AC, Freitas E, do Nascimento AG, Pugliese C, Kok F, Barbosa SMM.   +9 more
europepmc   +1 more source

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2. [PDF]

Neuropediatrics
Priglinger CS, Courage C, Lotz-Havla AS, Gerhardt M, Ehrt O, Kurz M, Pudritz H, Rudolph G, Jackson CB, Maier EM.   +9 more
europepmc   +1 more source

Quo vadis ureagenesis disorders? A journey from 90 years ago into the future. [PDF]

J Inherit Metab Dis
Häberle J, Siri B, Dionisi-Vici C.
europepmc   +1 more source

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics. [PDF]

Mol Genet Metab Rep
Georgiou T, Grafakou O, Malekkou A, Athanasiou E, Ioannou I, Choleva V, Dionysiou M, Mavrikiou G, Demetriadou A, Anastasiadou V, Drousiotou A, Petrou PP.   +11 more
europepmc   +1 more source

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Inborn errors of amino acid metabolism in North India

Journal of Inherited Metabolic Disease, 1993
SummaryWe screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin‐layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic ...
Ganesh Das Prasad, Manjeet Kaur, I. C. Verma   +2 more
openaire   +4 more sources

Diagnosis of Inborn Errors of Amino Acid Metabolism

Archives of Pediatrics & Adolescent Medicine, 1967
IN THE PAST, new syndromes were reported when an astute clinical observer noted a pattern of symptoms which had not previously been recognized. Recently, the trend has been toward the description of biochemical aberrations long before the clinical manifestations of the diseases are established.
H. Ghadimi
openaire   +4 more sources

Special Diets for Infants With Inborn Errors of Amino Acid Metabolism [PDF]

Pediatrics, 1976
A sufficient variety of semisynthetic dietary products is now available to permit control of amino acid imbalance in several inborn errors of metabolism. However, they must be used carefully, and their effects monitored closely. Continuing development of products for this type of special diet—to provide a wider variety—is necessary ...
Malcolm A. Holliday, Arnold S. Anderson, Lewis A. Barness, Gilbert B. Forbes, Richard B. Goldbloom, James Haworth, Mary Jane Jesse, Alvin M. Mauer, Charles R. Scriver, Myron Winick, O. L. Kline, Robert W. Miller, Robert W. WInters, Malcolm A. Holliday, Joginder Chopra, Martha M. Freeman, Donough O'Brien, Charles R. Scriver, Selma Snyderman, Parvin Justice   +19 more
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Inborn Errors of Amino Acid and Organic Acid Metabolism

1991
Each of the 30 to 40 inborn errors of amino acid and or organic acid metabolism represent a rare occurrence in perinatal medicine. However, their combined incidence is about 1/4000 in the neonatal period. Their importance derives from what they tell us about intermediary metabolism and from the fact that these are generally treatable diseases if ...
Gerard T. Berry, Mark L. Batshaw
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Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism

Advances in Clinical Chemistry, 2019
Inborn errors of metabolism (IEMs) are a large class of genetic disorders that result from defects in enzymes involved in energy production and metabolism of nutrients. For every metabolic pathway, there are defects that can occur and potentially result in an IEM.
William S. Phipps, Patricia M. Jones, Khushbu Patel   +2 more
openaire   +4 more sources