Revista

Journal of Inborn Errors of Metabolism and Screening

Issns: 2326-4594
Áreas:
Indicadores Google Scholar Indicadores SCImagoJR Otros Indicadores Documentos Google Scholar Documentos SCIelo

Documentos Google Scholar

Año extracción
Documentos en la ventana de 3 años anteriores.

(124 documentos)

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titleyearsourcecitesauthorspublisherarticleurlcitesurlgsrankecccitesperyearcitesperauthorauthorcountage
1Arginine and citrulline for the treatment of MELAS syndrome2019Journal of inborn errors of …37AW El-Hattab, M Almannai, F ScagliaSciELO Brasilarticleurlcitesurl63718.51232
2Lysosomal storage diseases2019Journal of Inborn Errors of Metabolism and …29J Alroy, JA LyonsSciELO Brasilarticleurlcitesurl132914.51522
3Lysosomes, lysosomal storage diseases, and inflammation2019Journal of Inborn Errors of Metabolism and Screening24CM SimonaroSciELO Brasilarticleurlcitesurl724122412
4Beta-ketothiolase deficiency: resolving challenges in diagnosis2019Journal of Inborn …22E Abdelkreem, H Otsuka, H Sasai, Y Aoyama, ...SciELO Brasilarticleurlcitesurl112211452
5Coenzyme Q10 in the treatment of mitochondrial disease2019Journal of Inborn …18V Neergheen, A Chalasani, L Wainwright, ...SciELO Brasilarticleurlcitesurl12189542
6The link between hyperhomocysteinemia and hypomethylation: Implications for cardiovascular disease2019… of Inborn Errors of Metabolism and …18M Barroso, DE Handy, R CastroSciELO Brasilarticleurlcitesurl14189632
7SUMA technology and newborn screening tests for inherited metabolic diseases in Cuba: An Overview of the First 30 Years2019Journal of Inborn …17ECG Reyes, EM Castells, A Frómeta, ...SciELO Brasilarticleurlcitesurl22178.5442
8Mitochondrial disease and anesthesia2019… of Inborn Errors of Metabolism and …15VC Hsieh, EJ Krane, PG MorganSciELO Brasilarticleurlcitesurl16157.5532
9Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): 15-year follow-up …2019Journal of Inborn …15A Quartel, PR Harmatz, C Lampe, N Guffon, ...SciELO Brasilarticleurlcitesurl15157.5352
10A 15-year perspective of the Fabry Outcome Survey2019Journal of Inborn …12R Giugliani, DM Niu, U Ramaswami, M West, ...SciELO Brasilarticleurlcitesurl29126252
11The burden endured by caregivers of patients with morquio a syndrome: results from an international patient-reported outcomes survey2019Journal of Inborn …12CJ Hendriksz, L Christine, M Coker, SK Ucar, ...SciELO Brasilarticleurlcitesurl47126252
12The kidney in Fabry disease: more than mere sphingolipids overload2019Journal of Inborn Errors of Metabolism and Screening12H TrimarchiSciELO Brasilarticleurlcitesurl411261212
13Hematopoietic stem cell transplantation in mucopolysaccharidosis type II: a literature review and critical analysis2019Journal of Inborn Errors of Metabolism and …11AL Barth, DDG HorovitzSciELO Brasilarticleurlcitesurl20115.5622
14An adapted clinical measurement tool for the key symptoms of CLN2 disease2019Journal of Inborn …11KW Wyrwich, A Schulz, M Nickel, P Slasor, ...SciELO Brasilarticleurlcitesurl18115.5252
15Clinical trials in mitochondrial disease: an update on EPI-743 and RP1032019Journal of Inborn Errors of Metabolism and …11GM Enns, BH CohenSciELO Brasilarticleurlcitesurl27115.5622
16Gene therapy for lysosomal storage disorders: Recent advances and limitations2019Journal of Inborn Errors of Metabolism and …11EA Gonzalez, G BaldoSciELO Brasilarticleurlcitesurl33115.5622
17The central nervous system involvement in Fabry disease: a review2019Journal of Inborn Errors of Metabolism and …10A Burlina, J PoliteiSciELO Brasilarticleurlcitesurl40105522
18Epilepsy and mitochondrial dysfunction: a single center's experience2019Journal of Inborn Errors of Metabolism and Screening10RP SanetoSciELO Brasilarticleurlcitesurl361051012
19Late diagnosis of Fanconi-Bickel syndrome: challenges with the diagnosis and literature review2019Journal of Inborn Errors …9N Gupta, B Nambam, DA Weinstein, ...SciELO Brasilarticleurlcitesurl4994.5242
20Small fiber neuropathy in Fabry disease: a review of pathophysiology and treatment2019Journal of Inborn Errors of …9JM Politei, C Durand, AB SchenoneSciELO Brasilarticleurlcitesurl4694.5332
21Inborn errors of ketone body metabolism and transport: an update for the clinic and for clinical laboratories2019… of Inborn Errors of Metabolism and …9JO Sass, T Fukao, GA MitchellSciELO Brasilarticleurlcitesurl3094.5332
22Inborn errors of intermediary metabolism in critically ill Mexican newborns2019Journal of Inborn …9IG Isabel, FL Cynthia, RG Diana, BM Leticia, ...SciELO Brasilarticleurlcitesurl5394.5252
23The challenge of diagnosis and indication for treatment in Fabry disease2019Journal of Inborn …8MA Curiati, CS Aranda, SO Kyosen, P Varela, ...SciELO Brasilarticleurlcitesurl5284252
24Hampered vitamin B12 metabolism in Gaucher disease?2019Journal of Inborn …8L Hannibal, M Siebert, S Basgalupp, F Vario, ...SciELO Brasilarticleurlcitesurl5984252
25Adherence to treatment of phenylketonuria: A study in southern Brazilian patients2019Journal of Inborn …8TA Vieira, T Nalin, BC Krug, CM Bittar, ...SciELO Brasilarticleurlcitesurl6084252
26A Turkish patient with succinyl-CoA: 3-oxoacid CoA transferase deficiency mimicking diabetic ketoacidosis2019Journal of Inborn …8S Erdol, M Ture, T Yakut, H Saglam, H Sasai, ...SciELO Brasilarticleurlcitesurl5184162
27Cardiac manifestation of Fabry disease: from hypertrophic cardiomyopathy to early diagnosis and treatment in patients without left ventricular hypertrophy2019Journal of Inborn Errors of Metabolism and …7A Fernández, J PoliteiSciELO Brasilarticleurlcitesurl5673.5422
28The link between lysosomal storage disorders and more common diseases2019Journal of Inborn Errors of Metabolism and Screening7M BeckSciELO Brasilarticleurlcitesurl5773.5712
29Chilean nutrition management protocol for patients with phenylketonuria2019… of Inborn Errors of Metabolism and …7G Castro, V Hamilton, V CornejoSciELO Brasilarticleurlcitesurl5473.5232
30A cerebrospinal fluid collection study in pediatric and adult patients With Hunter syndrome2019Journal of Inborn …7CJ Hendriksz, J Muenzer, BK Burton, L Pan, ...SciELO Brasilarticleurlcitesurl6573.5152
31Metabolic control in patients with phenylketonuria pre-and post-sapropterin loading test2019Journal of Inborn …7CS Barbosa, MF Almeida, C Sousa, S Rocha, ...SciELO Brasilarticleurlcitesurl6443.5152
32Understanding the early presentation of mucopolysaccharidoses disorders: results of a systematic literature review and physician survey2019Journal of Inborn …7L Clarke, C Ellaway, HE Foster, R Giugliani, ...SciELO Brasilarticleurlcitesurl3473.5152
33A new Phe-free protein substitute engineered to allow a physiological absorption of free amino acids for phenylketonuria2019Journal of Inborn …7N Giarratana, G Gallina, V Panzeri, A Frangi, ...SciELO Brasilarticleurlcitesurl3773.5152
34Homocysteine and psychiatric disorders2019Journal of Inborn Errors of …7VC Silva, AC Oliveira, V D'AlmeidaSciELO Brasilarticleurlcitesurl5073.5232
35Alternative therapies for PKU2019Journal of Inborn Errors of Metabolism and …7N Spécola, A ChiesaSciELO Brasilarticleurlcitesurl5873.5422
36Overview of approaches to mitochondrial disease therapy2019Journal of Inborn Errors of Metabolism …7D Lehmann, R McFarlandSciELO Brasilarticleurlcitesurl4273.5422
37Mucopolysaccharidosis: caregiver quality of life2019Journal of Inborn …6NR Guarany, AP Vanz, MVMB Wilke, ...SciELO Brasilarticleurlcitesurl6663242
38Obstructive sleep apnea in MPS: a systematic review of pretreatment and posttreatment prevalence and severity2019Journal of Inborn Errors …6AR Pal, N Brown, SA Jones, BW Bigger, ...SciELO Brasilarticleurlcitesurl6963152
39Dietary management of the ketogenic glycogen storage diseases2019Journal of Inborn Errors of …6K Bhattacharya, J Pontin, S ThompsonSciELO Brasilarticleurlcitesurl6163232
40The role of next-generation sequencing in the diagnosis of lysosomal storage disorders2019Journal of Inborn Errors of Metabolism …6K Komlosi, A Sólyom, M BeckSciELO Brasilarticleurlcitesurl6263232
41Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A …2020Journal of Inborn Errors of …5LJM Giraldo, D Arturo-Terranova, ...SciELO Brasilarticleurlcitesurl155231
42The incidence of transient neonatal tyrosinemia within a Mexican population2019Journal of Inborn …5AV Zea-Rey, H Cruz-Camino, ...SciELO Brasilarticleurlcitesurl6352.5232
43Guanidinoacetate methyltransferase deficiency: a review of guanidinoacetate neurotoxicity2019Journal of Inborn Errors of Metabolism and …5EP Marques, ATS WyseSciELO Brasilarticleurlcitesurl6852.5322
44Strategies for successful long-term engagement of adults with phenylalanine hydroxylase deficiency returning to the clinic2019Journal of Inborn …4J Thomas, M Nguyen-Driver, H Bausell, ...SciELO Brasilarticleurlcitesurl7042142
45Phenylalanine hydroxylase (PAH) genotyping in PKU argentine patients2019Journal of Inborn …4RE Enacán, MN Miñana, L Fernandez, ...SciELO Brasilarticleurlcitesurl242142
46Urinary glycosaminoglycan electrophoresis with optimized keratan sulfate separation using Peltier system for the screening of mucopolysaccharidoses2019Journal of Inborn Errors of Metabolism and Screening4MT TanyalcinSciELO Brasilarticleurlcitesurl8142412
47Incidence of inborn errors of metabolism by expanded newborn screening in a Mexican hospital2019Journal of Inborn …4C Cantú-Reyna, LM Zepeda, R Montemayor, ...SciELO Brasilarticleurlcitesurl7442142
48An adaptation of the profile of mood states for use in adults with phenylketonuria2019Journal of Inborn …4ED Bacci, KW Wyrwich, KS Gries, Y Chen, ...SciELO Brasilarticleurlcitesurl8042152
49β-Galactosidase Deficiency in Colombia: Report of 20 Patients Detected Using Dried Blood Spot Samples2019Journal of Inborn …4A Uribe, A Ayala, M España, I Arevalo, ...SciELO Brasilarticleurlcitesurl8542152
50Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients2019Journal of Inborn …4S Poloni, GW Hoss, F Sperb-Ludwig, ...SciELO Brasilarticleurlcitesurl5542142
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