CLINICAL, 31P-MR SPECTROSCOPY AND MOLECULAR STUDIES OF MUSCLE PGAM DEFICIENCY IN A SMALL COMMUNITY OF SOUTHERN ITALY
- 1 Anni 1993/1994
- 20.658€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1996 MUSCLE & NERVE
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred
- 1994 JOURNAL OF NEUROLOGY
MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM) DEFICIENCY IN THE 1ST CAUCASIAN PATIENT - BIOCHEMISTRY, MUSCLE CULTURE AND P-31-MR SPECTROSCOPY
- 1995 JOURNAL OF NEUROLOGY
EARLY-ONSET CEREBELLAR-ATAXIA, MYOCLONUS AND HYPOGONADISM IN A CASE OF MITOCHONDRIAL COMPLEX-III DEFICIENCY TREATED WITH VITAMIN-K3 AND VITAMIN-C
- 1995 MUSCLE & NERVE
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency
