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L. Diogo · SciRah

Researcher profile · Semantic Scholar

L. Diogo

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L. Diogo — researcher profile on SciRah

h-index: 28
Works: 87
Citations: 2,616

Most-cited papers

Mitochondrial dysfunction in autism spectrum disorders: a population‐based study
G. Oliveira, L. Diogo, M. Grazina, P. Garcia +6 more
2005Developmental Medicine & Child Neurology257 citations
Semantic Scholar
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
M. Steenweg, D. Ghezzi, T. Haack, T. Abbink +11 more
2012Brain : a journal of neurology219 citations Open access
Semantic Scholar
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
J. M. van de Kamp, O. Betsalel, S. Mercimek-Mahmutoglu, L. Abulhoul +56 more
2013Journal of Medical Genetics151 citations Open access
Semantic Scholar
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
S. Stöckler-Ipsiroglu, C. van Karnebeek, N. Longo, G. Korenke +28 more
2014Molecular Genetics and Metabolism137 citations Open access
Semantic Scholar
Inborn errors of RNA lariat metabolism in humans with brainstem viral infection
Shen-Ying Zhang, N. E. Clark, C. Freije, Elodie Pauwels +45 more
2018Cell128 citations Open access
Semantic Scholar
Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene
C. Correia, A. Coutinho, L. Diogo, M. Grazina +8 more
2006Journal of Autism and Developmental Disorders117 citations Open access
Semantic Scholar
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
C. Nogueira, C. Aiello, R. Cerone, E. Martins +17 more
2008Molecular Genetics and Metabolism100 citations
Semantic Scholar
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jos C. Jansen, S. Çırak, M. van Scherpenzeel, S. Timal +39 more
2016American Journal of Human Genetics95 citations Open access
Semantic Scholar
Nonketotic Hyperglycinemia
C. Veríssimo, P. Garcia, Marta Simões, C. Robalo +3 more
2013Journal of Child Neurology91 citations
Semantic Scholar
Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
Inês M. S. Guerra, H. Ferreira, Tânia Melo, Hugo Rocha +4 more
2022International Journal of Molecular Sciences89 citations Open access
Semantic Scholar
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
D. Yubero, R. Montero, M. Martín, J. Montoya +50 more
2016Mitochondrion (Amsterdam. Print)73 citations Open access
Semantic Scholar
ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients
B. Ng, S. Shiryaev, D. Rymen, E. Eklund +55 more
2016Human Mutation54 citations Open access
Semantic Scholar
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
R. Montero, M. Grazina, E. López-Gallardo, J. Montoya +22 more
2013Mitochondrion (Amsterdam. Print)54 citations Open access
Semantic Scholar
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
M. Huemer, D. Diodato, D. Martinelli, G. Olivieri +57 more
2019Journal of Inherited Metabolic Disease49 citations Open access
Semantic Scholar
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
M. Vals, A. Ashikov, P. Ilves, D. Loorits +22 more
2019Journal of Inherited Metabolic Disease48 citations Open access
Semantic Scholar
Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin
L. Vilarinho, M. L. Cardoso, P. Gaspar, C. Barbot +17 more
2005Human Mutation43 citations Open access
Semantic Scholar
Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.
M. Grazina, L. Diogo, P. C. García, Eduardo D. Silva +3 more
2007European journal of paediatric neurology41 citations
Semantic Scholar
Neonatal liver failure due to deoxyguanosine kinase deficiency
S. Nobre, M. Grazina, Francisco Silva, C. Pinto +2 more
2012BMJ Case Reports38 citations Open access
Semantic Scholar
NMR Derivatives for Quantification of 2H and 13C‐Enrichment of Human Glucuronide from Metabolic Tracers
John G. Jones, C. Barosa, Filipe Gomes, Ana Carina Mendes +9 more
200638 citations
Semantic Scholar
Outcome of three cases of untreated maternal glutaric aciduria type I
P. Garcia, E. Martins, L. Diogo, H. Rocha +7 more
2008European Journal of Pediatrics37 citations
Semantic Scholar
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Sofia Quental, Sandra Macedo-Ribeiro, Raquel Matos, L. Vilarinho +12 more
2008Molecular Genetics and Metabolism36 citations
Semantic Scholar
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high‐resolution 1H NMR spectroscopy
I. Duarte, Brian J. Goodfellow, A. Barros, John G. Jones +4 more
2007NMR in Biomedicine35 citations Open access
Semantic Scholar
Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1
J. Nunes, S. Loureiro, S. Carvalho, R. P. Pais +4 more
2013The Neuroradiology Journal32 citations Open access
Semantic Scholar
Null mutations and lethal congenital form of glycogen storage disease type IV.
S. Assereto, O. V. van Diggelen, L. Diogo, E. Morava +10 more
2007Biochemical and Biophysical Research Communications - BBRC31 citations
Semantic Scholar
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.
F. Regateiro, S. Belkaya, N. Neves, Sandra Ferreira +7 more
2017European Journal of Medical Genetics29 citations
Semantic Scholar
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
Renata Oliveira, E. Sommerville, K. Thompson, J. Nunes +6 more
2016JIMD Reports29 citations
Semantic Scholar
Incidence of maple syrup urine disease in Portugal.
Sofia Quental, L. Vilarinho, E. Martins, E. Teles +8 more
2010Molecular Genetics and Metabolism29 citations
Semantic Scholar
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.
M. L. Cardoso, M. R. Rodrigues, E. Leão, E. Martins +5 more
2004Molecular Genetics and Metabolism29 citations
Semantic Scholar
Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.
P. B. Luis, J. Ruiter, R. Ofman, L. Ijlst +7 more
2011Biochemical Pharmacology27 citations
Semantic Scholar
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene
Rita Quental, L. Azevedo, V. Rubio, L. Diogo +1 more
2009Clinical Genetics26 citations
Semantic Scholar
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
M. Couce, P. Sánchez-Pintos, L. Diogo, E. Leão-Teles +10 more
2013Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome
Renata Oliveira, Cristina Pereira, F. Rodrigues, Claudia Alfaite +8 more
2013Epileptic disorders24 citations
Semantic Scholar
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
P. B. Luis, J. Ruiter, L. Ijlst, L. Diogo +5 more
2012Journal of Inherited Metabolic Disease23 citations
Semantic Scholar
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.
E. Costa, F. Duque, J. Oliveira, P. Garcia +3 more
2007Blood Cells, Molecules & Diseases22 citations Open access
Semantic Scholar
Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.
L. Diogo, M. Grazina, P. Garcia, O. Rebelo +5 more
2009Pediatric Neurology21 citations
Semantic Scholar
Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children.
Inês M. S. Guerra, L. Diogo, Marisa Pinho, T. Melo +3 more
2021Journal of Proteome Research19 citations Open access
Semantic Scholar
A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria
C. Nogueira, M. Meschini, C. Nesti, P. Garcia +6 more
2015Journal of Child Neurology19 citations
Semantic Scholar
Phenotyping GABA transaminase deficiency: a case description and literature review
Pedro Louro, L. Ramos, C. Robalo, C. Cancelinha +8 more
2016Journal of Inherited Metabolic Disease18 citations Open access
Semantic Scholar
Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease.
John G. Jones, P. Garcia, C. Barosa, T. Delgado +1 more
2009Metabolic Engineering18 citations Open access
Semantic Scholar
Congenital Disorders of Glycosylation in Portugal - Two Decades of Experience.
Dulce Quelhas PharmaD, E. Martins, L. Azevedo, A. Bandeira +20 more
2020Jornal de Pediatria17 citations Open access
Semantic Scholar
Acute liver failure in under two year-olds--are there markers of metabolic disease on admission?
A. Brett, C. Pinto, L. Carvalho, P. Garcia +2 more
2013Annals of Hepatology17 citations Open access
Semantic Scholar
Antenatal manifestations of mitochondrial disorders
Mariana Vide Tavares, M. Santos, A. P. Domingues, J. Pratas +5 more
2013Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
Functional correction by antisense therapy of a splicing mutation in the GALT gene
A. I. Coelho, S. Lourenço, M. Trabuco, Maria João Silva +6 more
2014European Journal of Human Genetics16 citations Open access
Semantic Scholar
Skeletal complications in mucopolysaccharidosis VI patients: Case reports
P. Garcia, S. Sousa, T. Ling, M. Conceição +3 more
2010Journal of Pediatric Rehabilitation Medicine16 citations Open access
Semantic Scholar
Acute liver failure related to inherited metabolic diseases in young children
F. Costa, Rita Moinho, Sandra Ferreira, P. Garcia +3 more
201714 citations Open access
Semantic Scholar
Retrospective study of the medium‐chain acyl‐CoA dehydrogenase deficiency in Portugal
F. V. Ventura, P. Leandro, A. Luz, I. Rivera +11 more
2014Clinical Genetics14 citations
Semantic Scholar
Quantification of hepatic transaldolase exchange activity and its effects on tracer measurements of indirect pathway flux in humans
John G. Jones, P. Garcia, C. Barosa, T. C. Delgado +2 more
2008Magnetic Resonance in Medicine14 citations Open access
Semantic Scholar
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
M. Bacalhau, J. Pratas, Marta Simões, Cândida Mendes +5 more
2017European Journal of Medical Genetics13 citations
Semantic Scholar
Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre.
Inês Romão Luz, Cristina Pereira, P. Garcia, Fátima Ferreira +4 more
2019Acta Médica Portuguesa12 citations Open access
Semantic Scholar
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal
A. I. Coelho, R. Ramos, A. Gaspar, C. Costa +15 more
2014Journal of Inherited Metabolic Disease12 citations Open access
Semantic Scholar

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