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Increased pyroglutamate in CSF of different inherited errors of metabolism
British Library Online Contents | 1998| -
Histoenzymology and electron microscopy of lymphocytes as a toot for the study of mitochondrial disorders
British Library Online Contents | 1998| -
Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes wtih NTBC treatment
British Library Online Contents | 1999| -
Increased excretion of coproporphyrin 1 in a patient with hereditary tyrosinaemia type I. Relevant changes with NTBC treatment
British Library Online Contents | 1998| -
Abnormal behaviour of uroporphyrinogen III synthase (UROIIIS) in hereditary tirosinaemia type I (HTTI) and transferase deficiency galactosemia (TDG)
British Library Online Contents | 1999| -
Galactosialidosis with a high residual -galactosidase activity in an Argentinean patient
British Library Online Contents | 1998| -
CSF polyol profiles in inherited metabolic disorders
British Library Conference Proceedings | 2000| -
Brain MRI signs of leukoencephalopathy in isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency
British Library Conference Proceedings | 1998| -
Brain MRI signs of leukoencephalopathy in isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency
British Library Online Contents | 1998| -
Distinct features in Argentinean patients with liver glycogenosis storage disease
British Library Conference Proceedings | 2000| -
Increased pyroglutamate in CSF of different inherited errors of metabolism
British Library Conference Proceedings | 1998| -
Increased excretion of coproporphyrin 1 in a patient with hereditary tyrosinaemia type I. Relevant changes with NTBC treatment
British Library Conference Proceedings | 1998| -
Histoenzymology and electron microscopy of lymphocytes as a tool for the study of mitochondrial disorders
British Library Conference Proceedings | 1998| -
Cerebrospinal fluid purines and pyrimidines may reflect excitoxicity in organic acidurias and lysosomal disorders
British Library Conference Proceedings | 2000| -
Congential erythropoeitic porphyria (CEP): decreased essential fatty acids (EFA) in erythocytes
British Library Conference Proceedings | 2000| -
First description of beta-hexosaminidase S in normal individuals and heterozygotes of Sandhoff disease with different genotypes
British Library Conference Proceedings | 2000| -
Studies on Argentinean heterozygotes of Sandhoff disease. A pronounced variability of beta-hexosaminidase isoenzymes in individuals with different genotypes
British Library Conference Proceedings | 2000|
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