Concepedia

Marco Spada

MS

78

Publications

3.8K

Citations

31

H-Index

1993

Active since

Affiliations

University of Turin(Current)

Ospedale Regina Margherita

Istituti di Ricovero e Cura a Carattere Scientifico

Bambino Gesù Children's Hospital

University of Milan

Marco Spada is an author at University of Turin specializing in medicine, pathology, and genetics.

Top concepts

MedicinePathologyGeneticsMetabolismInherited Metabolic DiseaseBiochemistryPediatricsClinical GeneticsNephrologyPublic Health

Publications per year

1993–2023

78

Publications

78

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 988 citations · Full text

Mendelian Disorder, Pediatrics, Prenatal Diagnosis +4

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 259 citations

Down Syndrome, Primary Immunodeficiency, Developmental Anomaly +10

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

S. B. van der Meer, F Poggi, Marco Spada et al. · The Journal of Pediatrics · 1994 · 131 citations

Vitamin Nutrition, Translational Medicine, Hematology +6

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

Disease Characteristics, Disease Mechanism, Genetic Disorder +10

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Giovanni Duro, Carmela Zizzo, Giuseppe Cammarata et al. · International Journal of Molecular Sciences · 2018 · 96 citations · Full text

Anderson-fabry Disease, Genetics, Genetic Epidemiology +22

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