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Journal of Inherited Metabolic Disease|May 30, 2008
Renal tubular function in children with tyrosinaemia type I treated with nitisinoneS Santra, M A Preece, S-A Hulton, et al.Journal of Inherited Metabolic Disease|May 27, 2008
Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeO Søvik, P R Njølstad, E Jellum, et al.Journal of Inherited Metabolic Disease|May 27, 2008
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic stepsE Morava, H Wosik, J Kárteszi, et al.Journal of Inherited Metabolic Disease|May 27, 2008
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatmentJ-U Schlump, C Perot, K Ketteler, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Evidence for both endogenous and exogenous sources of the sphingomyelin storage in lymphoid cell lines from patients with Niemann-Pick disease types A and BT Levade, R Salvayre, A Maret, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Carrier detection for Sanfilippo A syndromeR Matalon, M Deanching, R Marback, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complexM A Birch-Machin, I M Shepherd, M Solomon, et al.Journal of Inherited Metabolic Disease|September 11, 2019
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuriaJuliette H Hughes, Peter J M Wilson, Hazel Sutherland, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Prolinase activity in prolidase-deficient fibroblastsG Miech, I Myara, M Mangeot, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Excretion of phenylpyruvic, 4-hydroxyphenylpyruvic and indolyl-3-acetic acids by the skin fibroblasts from a phenylketonuric childA G Antoshechkin, L A Zuyeva, L A MaximovaPageof 429