statistiche ricercatore

Nome	#
Clinical profile and outcome of cardiac involvement in MELAS syndrome	200
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations	122
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders	116
SARS-CoV-2 infection in a patient with propionic acidemia	100
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review	95
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview	90
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study	90
Morquio B disease: From pathophysiology towards diagnosis	85
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report	74
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome	66
Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre	65
Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency	65
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	54
Communicating a Positive Result at Newborn Screening and Parental Distress	53
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature	29
Totale	1.304

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	41	0	0	0	0	0	0	7	10	6	9	7	2
2020/2021	163	9	11	12	13	21	15	8	11	22	23	8	10
2021/2022	76	4	1	2	5	1	7	6	11	10	4	7	18
2022/2023	225	19	46	15	13	8	32	28	14	24	4	13	9
2023/2024	135	4	11	14	5	6	18	7	35	4	19	5	7
2024/2025	664	35	87	43	123	226	150	0	0	0	0	0	0
Totale													1.304