BURLINA, ALBERTO

BURLINA, ALBERTO  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 20 di 160 (tempo di esecuzione: 0.035 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature 2022 Gragnaniello, VincenzaCarraro, SilviaBurlina, Alberto + MOLECULAR GENETICS AND METABOLISM REPORTS - -
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy 2023 Gragnaniello V.Salviati L.Burlina A. + ORPHANET JOURNAL OF RARE DISEASES - -
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus 2023 Burlina A.Donati M. A. + INTERNAL AND EMERGENCY MEDICINE - -
Adenosine deaminase isoenzymes in serum: An improved spectrophotometric method 1984 Burlina A + IRCS MEDICAL SCIENCE - -
Allopurinol challange test: A screening method for ornithine transcarbamylase deficiency 1993 BURLINA A + RIVISTA ITALIANA DI PEDIATRIA - -
Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients 1999 BURLINA A + METABOLISM, CLINICAL AND EXPERIMENTAL - -
An atypical form of pyruvate carboxylase deficiency 1997 BURLINA A + RIVISTA ITALIANA DI PEDIATRIA - -
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient 2006 BURLINA A + JOURNAL OF INHERITED METABOLIC DISEASE - -
Apparent diffusion coefficinet restriction in the white matter: going beyond acute brain territorial ischemia 2011 BURLINA AManara R + INSIGHTS INTO IMAGING - -
Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases 2012 BURLINA A + MOLECULAR GENETICS AND METABOLISM - -
Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy 1984 BURLINA A + CLINICA CHIMICA ACTA - -
Behaviour of several enzymes of lysosomal origin in human plasma during whole blood staorage 1984 BURLINA A + CLINICA CHIMICA ACTA - -
Behaviour of some lysosomal enzymes in the plasma of insulin dependent diabetic patients during artificial pancreas treatment 1987 BURLINA A + CLINICAL BIOCHEMISTRY - -
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency [1] 1993 BURLINA A + EUROPEAN JOURNAL OF PEDIATRICS - -
BIOCHEMICAL DIAGNOSIS OF CONGENITAL LYSOSOMAL DISEASES 1983 BURLINA A + - - PROGRESS IN PERINATAL MEDICINE\
Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case 1989 BURLINA A + EPILEPSIA - -
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 2018 Toldo, IreneBONARDI, CLAUDIA MARIABettella, ElisaPolli, RobertaTalenti, GiacomoBurlina, AlbertoSartori, StefanoMurgia, Alessandra EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
Calcium and phosphorus in relation to the water for diluting milk in the 1st months of life 1986 BURLINA A + MINERVA PEDIATRICA - -
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency 1995 Burlina A + THE JOURNAL OF BIOLOGICAL CHEMISTRY - -
Characterization of phenylketonuria alleles in the Italian population 1995 Burlina A + EUROPEAN JOURNAL OF HUMAN GENETICS - -