Found: 19
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A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 233, doi. 10.3390/genes13020233
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- Publication type:
- Article
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6615, doi. 10.3390/ijms25126615
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- Publication type:
- Article
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 5, p. 1414, doi. 10.1007/s00415-020-09729-z
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- Publication type:
- Article
Newborn with rhizomelia and difficulty breathing.
- Published in:
- 2017
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- Publication type:
- editorial
Newborn with rhizomelia and difficulty breathing.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Newborn with rhizomelia and difficulty breathing.
- Published in:
- 2016
- By:
- Publication type:
- editorial
Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.
- Published in:
- 2018
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- Publication type:
- journal article
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047
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- Publication type:
- Article
Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation.
- Published in:
- Microorganisms, 2021, v. 9, n. 12, p. 2599, doi. 10.3390/microorganisms9122599
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- Publication type:
- Article
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 916, doi. 10.1002/jimd.12368
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- Publication type:
- Article
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 770, doi. 10.1002/jimd.12224
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- Publication type:
- Article
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases.
- Published in:
- Glycoconjugate Journal, 2021, v. 38, n. 2, p. 201, doi. 10.1007/s10719-020-09947-7
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- Publication type:
- Article
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
- Published in:
- 2017
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- Publication type:
- journal article
Long‐term follow‐up results in enzyme replacement therapy for Pompe disease: a case report.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 389, doi. 10.1007/s10545-010-9195-2
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- Publication type:
- Article
First paediatric COVID‐19 associated death in Italy.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 5, p. 736, doi. 10.1111/jpc.14994
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- Publication type:
- Article
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 4, p. 810, doi. 10.1002/epi4.12630
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- Publication type:
- Article
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
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- Publication type:
- Article
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.
- Published in:
- Behavioural Neurology, 2024, v. 2024, p. 1, doi. 10.1155/2024/1023861
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- Publication type:
- Article
Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 219, doi. 10.1002/ajmg.a.61916
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- Publication type:
- Article