Associated Papers
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.
Pagola-Lorz I et al.
Orphanet Journal of Rare Diseases, 2019
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
Li J et al.
Molecular Psychiatry, 2017
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
Anichini A et al.
Neurological Research, 2011
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