Works matching DE "INBORN errors of metabolism"
Results: 2203
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
- Published in:
- PeerJ, 2024, p. 1, doi. 10.7717/peerj.18173
- By:
- Publication type:
- Article
Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03570-1
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- Publication type:
- Article
Practical management of the shocked neonate.
- Published in:
- Emergency Medicine Australasia, 2013, v. 25, n. 1, p. 83, doi. 10.1111/1742-6723.12009
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- Publication type:
- Article
Sedation for children with metachromatic leukodystrophy undergoing MRI.
- Published in:
- Pediatric Anesthesia, 2007, v. 17, n. 1, p. 64, doi. 10.1111/j.1460-9592.2006.02002.x
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- Publication type:
- Article
Tratamiento de urgencia de la acidemia metilmalónica.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 1, p. 48
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- Publication type:
- Article
Manifestaciones oftalmológicas de los errores innatos del metabolismo.
- Published in:
- Acta Pediatrica de Mexico, 2013, v. 34, n. 4, p. 212
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- Publication type:
- Article
Experiencia con sapropterina en pacientes mexicanos con hiperfenilalaninemia.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 331
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- Publication type:
- Article
Importancia de los registros nacionales e internacionales de errores innatos del metabolismo.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 329
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- Publication type:
- Article
Aspectos generales y panorama actual del estudio molecular de la fenilcetonuria (PKU) en México.
- Published in:
- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 324
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- Publication type:
- Article
Actualidades en el tratamiento nutricional de la fenilcetonuria.
- Published in:
- Acta Pediatrica de Mexico, 2011, v. 32, n. 2, p. 107
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- Publication type:
- Article
Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría.
- Published in:
- Acta Pediatrica de Mexico, 2010, v. 31, n. 6, p. 297
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- Publication type:
- Article
Acidemia metilmalónica: diagnóstico temprano y oportuno. Presentación de un caso.
- Published in:
- Acta Pediatrica de Mexico, 2006, v. 27, n. 5, p. 289
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- Publication type:
- Article
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i‐PARIHS framework.
- Published in:
- Nutrition & Dietetics, 2019, v. 76, n. 2, p. 141, doi. 10.1111/1747-0080.12517
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- Publication type:
- Article
CITATIONS AND CLINICIANS' NOTES: MlCRONUTRIENTS.
- Published in:
- Current Medical Literature: Clinical Nutrition, 2004, v. 13, n. 4, p. 71
- Publication type:
- Article
Pycnogenol<sup>®</sup> prevents haemolytic injury in G6PD deficient human erythrocytes.
- Published in:
- Phytotherapy Research, 2003, v. 17, n. 6, p. 671, doi. 10.1002/ptr.1334
- By:
- Publication type:
- Article
Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 453, doi. 10.1007/s10024-005-0025-8
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- Publication type:
- Article
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses.
- Published in:
- Acta Neuropathologica, 2006, v. 111, n. 2, p. 168, doi. 10.1007/s00401-005-0024-x
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- Publication type:
- Article
Neuronal ceroid lipofuscinosis: late infantile or Janský Bielschowsky type – re-revisited.
- Published in:
- Acta Neuropathologica, 2001, v. 102, n. 5, p. 485, doi. 10.1007/s004010100403
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- Publication type:
- Article
Equine neuronal ceroid lipofuscinosis.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 4, p. 410, doi. 10.1007/s004010000298
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- Publication type:
- Article
A lysosomal storage disease of Romney sheep that resembles human type 3 G<sub>M1</sub> gangliosidosis.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 3, p. 225, doi. 10.1007/s004010000267
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- Publication type:
- Article
A Rare Neonatal Intramedullary Immature Teratoma Undiagnosed in utero: A Case Report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
- Published in:
- Nature, 2000, v. 406, n. 6798, p. 906, doi. 10.1038/35022604
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- Publication type:
- Article
A Siamese neural network model for the prioritization of metabolic disorders by integrating real and simulated data.
- Published in:
- Bioinformatics, 2020, v. 36, p. i787, doi. 10.1093/bioinformatics/btaa841
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- Publication type:
- Article
Update on liver cell transplantation.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Newborn Screening: Current Practice and Our Journey over the Last 60 Years.
- Published in:
- Journal of Applied Laboratory Medicine, 2024, v. 9, n. 4, p. 820, doi. 10.1093/jalm/jfae020
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- Publication type:
- Article
Genes y polimorfismos asociados a trastornos del metabolismo de los carbohidratos. Una revisión documental.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 86, doi. 10.31260/RepertMedCir.01217372.1584
- By:
- Publication type:
- Article
Intervenciones de enfermería en puérpera con riesgo de sangrado en IPS-Barranquilla 2022-2.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 7, doi. 10.31260/RepertMedCir.01217372.1584
- By:
- Publication type:
- Article
Terapia de reemplazo enzimático por 15 años en enfermedad de Pompe: reporte de caso.
- Published in:
- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 7, doi. 10.31260/RepertMedCir.01217372.1584
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- Publication type:
- Article
Inborn Errors of Metabolism in Pediatric Epilepsy.
- Published in:
- Journal of Pediatric Pharmacology & Therapeutics, 2019, v. 24, n. 5, p. 398, doi. 10.5863/1551-6776-24.5.398
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- Publication type:
- Article
An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.
- Published in:
- Journal of Pediatric Pharmacology & Therapeutics, 2018, v. 23, n. 6, p. 432, doi. 10.5863/1551-6776-23.6.432
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- Publication type:
- Article
Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks.
- Published in:
- Turkish Journal of Medical Sciences, 2024, v. 54, n. 4, p. 710, doi. 10.55730/1300-0144.5840
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- Publication type:
- Article
Advances in Self‐Assembly of Metabolite Nanostructures: Physiology, Pathology and Nanotechnology.
- Published in:
- ChemNanoMat, 2022, v. 8, n. 7, p. 1, doi. 10.1002/cnma.202200055
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- Publication type:
- Article
Trends in genetics - before the molecular era.
- Published in:
- Hereditas, 2010, v. 147, n. 5, p. 243, doi. 10.1111/j.1601-5223.2010.02197.x
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- Publication type:
- Article
Pacient s fenylketonurií: současné léčebné možnosti a výhled do budoucnosti.
- Published in:
- Pediatrie pro Praxi, 2020, v. 21, n. 5, p. 342
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- Publication type:
- Article
Clinical Characteristics of Pediatric Patients with Inborn Errors of Metabolism Admitted to Namazi Hospital, a Tertiary Referral Center in Shiraz, Southern Iran.
- Published in:
- Journal of Kerman University of Medical Sciences, 2023, v. 30, n. 6, p. 349, doi. 10.34172/jkmu.2023.59
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- Publication type:
- Article
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 948, doi. 10.1002/mdc3.14148
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- Publication type:
- Article
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, p. S40, doi. 10.1002/mdc3.13304
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- Publication type:
- Article
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, p. S85, doi. 10.1002/mdc3.13054
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- Publication type:
- Article
Acute liver damage and subsequent hypophosphatemia in malnourished patients: Case reports and review of literature.
- Published in:
- International Journal of Eating Disorders, 2008, v. 41, n. 2, p. 188, doi. 10.1002/eat.20476
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- Publication type:
- Article
Caregiver-Reported Economic Impacts of Pediatric Rare Diseases—A Scoping Review.
- Published in:
- Healthcare (2227-9032), 2024, v. 12, n. 24, p. 2578, doi. 10.3390/healthcare12242578
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- Publication type:
- Article
Management of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 1—Primary Immunodeficiencies.
- Published in:
- Healthcare (2227-9032), 2024, v. 12, n. 19, p. 1976, doi. 10.3390/healthcare12191976
- By:
- Publication type:
- Article
Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.
- Published in:
- Healthcare (2227-9032), 2021, v. 9, n. 11, p. 1407, doi. 10.3390/healthcare9111407
- By:
- Publication type:
- Article
Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Metabolic Epilepsies: Approaches to a Diagnostic Challenge.
- Published in:
- Canadian Journal of Neurological Sciences, 2009, v. 36, p. S67
- By:
- Publication type:
- Article
PP30 The Health System Impact Of Returning Rare Disease Variants As Secondary Findings From Genomic Sequencing: A Population-Based Model.
- Published in:
- 2025
- By:
- Publication type:
- Abstract
A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries.
- Published in:
- African Journal of Laboratory Medicine, 2023, v. 12, n. 1, p. 1, doi. 10.4102/ajlm.v12i1.1946
- By:
- Publication type:
- Article
Nasljedna nepodnošljivost fruktoze - pregled literature i prikaz dvoje bolesnika.
- Published in:
- Paediatria Croatica, 2021, v. 65, n. 1, p. 36, doi. 10.13112/pc.397
- By:
- Publication type:
- Article
Next generation sequencing - towards translation into clinical practice.
- Published in:
- Paediatria Croatica, 2013, v. 57, n. 4, p. 295
- By:
- Publication type:
- Article
Impact of mannose-binding lectin deficiency on radiocontrast-induced renal dysfunction.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article