statistiche ricercatore

Nome	#
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency	102
Deficit di PTPS: esordio tardivo con sindrome rigida-ipocinetica.	94
Analysis of Children and Adolescents with Familial Hypercholesterolemia	83
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course	69
Neutral lipid storage disease with myopathy and extended phenotype with novel PNPLA2 mutation	68
EXON DELETIONS IN PAH GENE IN ITALIAN HYPERPHENYLALANINEMIC PATIENTS	60
Newborn screening of galactosemia by tandem mass spectrometry (MS/MS): a pilot study.	53
A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening	44
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (PTPSD). A late diagnosed case	44
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics	43
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC	42
The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS). A late diagnosed case.	38
The phenotypic variability in 6- Pyruvoil- thetrahydrobiopterin synthase Deficiency (PTPSD). Clinical presentation and outcome of the italian patients.	37
FAOD (Malattie ossidazione degli acidi grassi): Indagini biochimiche e genetico-molecolari in ambito di un programma di screening neonatale	28
Totale	805

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	96	0	0	0	0	0	0	18	19	16	25	14	4
2020/2021	76	4	11	12	9	1	3	2	16	5	4	7	2
2021/2022	129	0	9	17	3	18	3	1	15	11	10	13	29
2022/2023	156	25	27	5	32	21	15	0	8	10	6	7	0
2023/2024	58	6	11	3	1	4	5	1	12	0	3	4	8
2024/2025	69	7	6	6	8	10	32	0	0	0	0	0	0
Totale													805

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