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exaly
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Department of Pediatrics
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top-articles
Department of Pediatrics
11
(top 5%)
papers
173
(top 5%)
citations
7
(top 5%)
h
-index
11
(top 5%)
g
-index
11
all documents
187
doc citations
104
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
Journal of Inherited Metabolic Disease
2020
40
2
Comorbidities in childhood associated with extrauterine growth restriction in preterm infants: a scoping review
European Journal of Pediatrics
2020
34
3
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis
European Journal of Paediatric Neurology
2015
29
4
Relevance of urinary S100B protein levels as a short-term prognostic biomarker in asphyxiated infants treated with hypothermia
Medicine (United States)
2017
24
5
Molecular mechanisms of appetite and obesity: a role for brain AMPK
Clinical Science
2016
18
6
A selective screening program for the early detection of mucopolysaccharidosis
Medicine (United States)
2017
12
7
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Molecular Genetics and Metabolism Reports
2018
10
8
Proteomics in Inherited Metabolic Disorders
International Journal of Molecular Sciences
2022
7
9
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
Scientific Reports
2019
6
10
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
American Journal of Human Genetics
2021
5
11
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
Genes
2020
2
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