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Francesca Furlan

Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di Milano
H指数:24
被引数:2,002

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Vitamin-B12 status among the mother–infant dyad: an explorative overview in a single centre in Lombardy

母亲-婴儿对中的维生素B12状况:在伦巴第地区单一中心中的探索性概述

2026-09-120
OA
Perceived severity and parental distress after positive expanded newborn screening: parent–clinician concordance and dyadic processes

阳性扩展新生儿筛查后的感知严重程度与父母痛苦:父母-临床医生一致性及伴侣过程

2026-04-290
OAAI
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿科迟发性庞贝病:来自一项意大利全国性调查的38例患者的结果及针对性诊断算法的提出

2025-11-280
OAAI
Expanded Newborn Screening in Italy: The First Report of Lombardy Region

意大利扩大新生儿筛查:伦巴第大区的首次报告

2025-09-290
OAAI
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

线粒体乙酰乙酰辅酶A硫解酶缺乏症:通过新生儿筛查发现的三个新病例证实了C4OH升高的意义

2025-09-060
OAAI
Expanded Newborn Screening in Italy: The First Report of Lombardy Region

意大利扩展新生儿筛查:伦巴第大区首份报告

2025-08-210
PRE
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31

更正:Berardo等人. 意大利新生儿筛查扩展:伦巴第地区的首次报告。Int. J. Neonatal Screen. 2025, 11, 31

2025-07-220
OAAI
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024-05-063
OAAI
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
2023-07-196
PRE
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
2022-08-0925
OAAI
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
2021-07-029
OAAI
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
2018-11-1612
OAAI
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
2014-10-01106
PREAI