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Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?
- Published in:
- 2021
- By:
- Publication type:
- journal article
Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1391, doi. 10.1007/s00431-014-2338-y
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- Publication type:
- Article
Cobalamin C defect presenting as severe neonatal hyperammonemia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131
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- Publication type:
- Article
Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants.
- Published in:
- Pharmaceutics, 2022, v. 14, n. 10, p. N.PAG, doi. 10.3390/pharmaceutics14102230
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- Publication type:
- Article
A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients.
- Published in:
- Pharmaceuticals (14248247), 2024, v. 17, n. 5, p. 649, doi. 10.3390/ph17050649
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- Publication type:
- Article
Immune Tolerance Induced Using Plasma Exchange and Rituximab in an Infantile Pompe Disease Patient.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 6, p. 850, doi. 10.1177/0883073813485819
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- Publication type:
- Article
Vici syndrome: a review.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
- By:
- Publication type:
- Article
The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
- By:
- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Recommendations for the management of tyrosinaemia type 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-8
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
- By:
- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Suggested guidelines for the diagnosis and management of urea cycle disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1172-7-32
- By:
- Publication type:
- Article
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
- Published in:
- 2016
- By:
- Publication type:
- journal article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neonatal Age.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5898, doi. 10.3390/ijms21165898
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- Publication type:
- Article
Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 21202, doi. 10.3390/ijms151121202
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- Publication type:
- Article
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
- Published in:
- Neuroradiology, 2020, v. 62, n. 10, p. 1315, doi. 10.1007/s00234-020-02501-0
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- Publication type:
- Article
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1239, doi. 10.1007/s00439-021-02350-8
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- Publication type:
- Article
ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
- Published in:
- Human Genetics, 2021, v. 140, n. 10, p. 1471, doi. 10.1007/s00439-021-02345-5
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- Publication type:
- Article
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
- Published in:
- Journal of Neuroimaging, 2011, v. 21, n. 2, p. e114, doi. 10.1111/j.1552-6569.2010.00476.x
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- Publication type:
- Article
Use of Antibiotics in Preterm Newborns.
- Published in:
- Antibiotics (2079-6382), 2022, v. 11, n. 9, p. 1142, doi. 10.3390/antibiotics11091142
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- Publication type:
- Article
Therapeutic Drug Monitoring of Amphotericin-B in Plasma and Peritoneal Fluid of Pediatric Patients after Liver Transplantation: A Case Series.
- Published in:
- Antibiotics (2079-6382), 2022, v. 11, n. 5, p. 640, doi. 10.3390/antibiotics11050640
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- Publication type:
- Article
Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 8, p. 428, doi. 10.3390/metabo14080428
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- Publication type:
- Article
The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 12, p. 504, doi. 10.3390/metabo10120504
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- Publication type:
- Article
A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 2, p. 44, doi. 10.3390/metabo10020044
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- Publication type:
- Article
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 10, p. 865, doi. 10.1007/s10038-007-0180-z
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- Publication type:
- Article
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 3, p. 403, doi. 10.1515/cclm-2016-0340
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- Publication type:
- Article
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
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- Publication type:
- Article
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231
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- Publication type:
- Article
Immunodeficiency in Vici syndrome: A heterogeneous phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 434, doi. 10.1002/ajmg.a.34244
- By:
- Publication type:
- Article
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2609, doi. 10.1002/ajmg.a.34325
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- Publication type:
- Article
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2860, doi. 10.1002/ajmg.a.34268
- By:
- Publication type:
- Article
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 83, doi. 10.1038/ng.2497
- By:
- Publication type:
- Article
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.
- Published in:
- Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 55, doi. 10.1111/nyas.12426
- By:
- Publication type:
- Article
Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 8, p. 725, doi. 10.1002/pd.1970150807
- By:
- Publication type:
- Article
MRI findings in an adolescent with type I citrullinaemia.
- Published in:
- Pediatric Radiology, 2008, v. 38, n. 2, p. 237, doi. 10.1007/s00247-007-0650-7
- By:
- Publication type:
- Article
Pharmacokinetic Evaluation of Eltrombopag in ITP Pediatric Patients.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.772873
- By:
- Publication type:
- Article
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1529, doi. 10.1007/s11011-017-0044-y
- By:
- Publication type:
- Article
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Analysis of LPI-causing mutations on y+LAT1 function and localization.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
- Published in:
- 2016
- By:
- Publication type:
- journal article