Results 131 to 140 of about 8,658 (196)

Pantethine therapy dramatically rescues end-stage failing heart in a patient with deficiency of coenzyme A biosynthesis. [PDF]

ESC Heart Fail
Goetz V, Lefort B, Barth M, Gueguen N, Bris C, Blanchard E, Benz-de Bretagne I, Blasco H, Tardieu M, Labarthe F.   +9 more
europepmc   +1 more source

Expanded Newborn Screening in Italy: The First Report of Lombardy Region. [PDF]

Int J Neonatal Screen
Berardo C, Vasco A, Mauri A, Lucchi S, Cappelletti L, Saielli L, Rizzetto M, Biganzoli D, Montrasio C, Postorivo D, Pratiffi E, Meta A, Carelli S, Amorosi A, Paci S, Cefalo G, Furlan F, Menni F, Gasperini S, Crescitelli V, Banderali G, Zuccotti G, Alberti L, Cereda C.   +23 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series. [PDF]

Clin Case Rep
Loftus E, Elbishari Z, Fitzsimons P, Howard C, Sheikh Y, Lynch B, Crushell E, Knerr I.   +7 more
europepmc   +1 more source

MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature. [PDF]

Ital J Pediatr
Maggio MC, Castana C, Caserta M, Di Fiore A, Siciliano V, Corsello G.   +5 more
europepmc   +1 more source

Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]

J Inherit Metab Dis
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, D'Alessandro A, Di Felice G, Maistri M, Baldissone E, Fratti AM, Simeoli R, Sacchetti E, Cairoli S, Rizzo C, Pariante R, Vacca M, Cappoli A, Albano C, Pietrobattista A, Spada M, Vici CD.   +21 more
europepmc   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

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 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   +3 more sources

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 ...
Phyllis B. Acosta, Barbara Kennedy, Kathryn Anderson   +2 more
openaire   +3 more sources