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JOURNAL OF INHERITED METABOLIC DISEASE
Rivista
Codice:
E092266
ISSN:
0141-8955
Dati Generali
Dati Generali
Pubblicazioni (16)
Pulisci
Ordina Pubblicazioni:
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Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)
Articolo
Clinical characterization of a novel congenital disorder of glycosylation (DPM2 mutation)
Articolo
DEFICIENCY OF SUBUNIT 6 OF THE CONSERVED OLIGOMERIC GOLGI COMPLEX (COG6-CDG): SECOND PATIENT, DIFFERENT PHENOTYPE
Articolo
Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate
Articolo
GLYCOSYLATION DEFECTS AND EPILEPSY
Abstract
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Articolo
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx
Articolo
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content
Articolo
Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA
Articolo
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
Articolo
Non-ketotic hyperglycinaemia: a new case with late onset.
Articolo
Phenylalanine and tyrosine metabolism in PKU heterozygotes: influence of different PAH mutations.
Articolo
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
Articolo
Secondary disorders of glycosylation in inborn errors of fructose metabolism
Articolo
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation
Articolo
Tyrosinaemia type Ia without excess of urinary succinylacetone
Articolo
No Results Found
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