Results 181 to 190 of about 17,668 (251)

Enzyme immobilization in biodegradable polymers for biomedical applications [PDF]

, 2005
Azevedo, Helena S., Costa, S. A., Reis, R. L.   +2 more
core  

MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in <i>SLC16A2</i>. [PDF]

Case Rep Genet
Arcari AA, Rodríguez ME, Armando R, Ayuso MS, De Iuliis La Torre MT, Szlago M.   +5 more
europepmc   +1 more source

[The inborn errors of metabolism of amino acids].

Postepy biochemii, 1973
openaire   +1 more source

Children's health: insights from space medicine on metabolic health. [PDF]

NPJ Microgravity
Ferraro S, Ghani F, Tosi M, Dave A, Verduci E, Mauri A, Zuccotti G, Mason CE, Marcovina S.   +8 more
europepmc   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much? [PDF]

J Inherit Metab Dis
Margoses D, Imbard A, Pontoizeau C, Brassier A, Arnoux JB, Bouchereau J, Bérat CM, Assoun M, Belloche C, Dewulf S, Dubois S, Samba B, Servais A, Dao M, Le Guillou E, de Colnet A, Ottolenghi C, de Lonlay P, Benoist JF, Schiff M.   +19 more
europepmc   +1 more source

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil. [PDF]

J Clin Med
Giugliani R, Siqueira ACM, Martins AM, Marcondes BF, Souza CFM, Dain Gandelman Horovitz D, Leão EKE, Gusto G, Carvalho GDS, Artigalás O, Boy R, Stefani RR, Rawat NS, Konidaris G.   +13 more
europepmc   +1 more source

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Nutrition support of inborn errors of amino acid metabolism

International Journal of Bio-Medical Computing, 1985
Programs for nutrition support of patients with phenylketonuria, maternal phenylketonuria, branched chain ketoaciduria and vitamin B-6 non-responsive homocystinuria were written in BASIC. These programs plan diets to fill diet prescriptions using natural foods, available amino acid-free or restricted elemental products, milk or infant proprietary ...
B, Kennedy, K, Anderson, P B, Acosta
openaire   +2 more sources

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 ...
M, Kaur, G P, Das, I C, Verma
openaire   +2 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.
openaire   +2 more sources