Works matching DE "INBORN errors of metabolism"
Results: 2226
Epidemiological, clinical and laboratory profile of glucose-6-phosphate dehydrogenase deficiency in the middle and north of Iraq: a comparative study.
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- Eastern Mediterranean Health Journal, 2010, v. 16, n. 8, p. 846, doi. 10.26719/2010.16.8.846
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- Article
Global economic costs due to vivax malaria and the potential impact of its radical cure: A modelling study.
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- 2021
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- Publication type:
- journal article
Glucose-6-phosphate dehydrogenase activity in individuals with and without malaria: Analysis of clinical trial, cross-sectional and case-control data from Bangladesh.
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- 2021
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- Publication type:
- journal article
Synovial chondromatosis of ankle in a child: A rare presentation.
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- Journal of Postgraduate Medicine, 2020, v. 66, n. 3, p. 178, doi. 10.4103/jpgm.JPGM_275_20
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- Article
Present status of understanding on the G6PD deficiency and natural selection.
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- Journal of Postgraduate Medicine, 2007, v. 53, n. 3, p. 193
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- Article
A systematic approach to the endocrine care of survivors of pediatric hematopoietic stem cell transplantation.
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- Cancer & Metastasis Reviews, 2020, v. 39, n. 1, p. 69, doi. 10.1007/s10555-020-09864-z
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- Article
Epidemiology of Pediatric Hypertrophic Cardiomyopathy in a 10-Year Medicaid Cohort.
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- Pediatric Cardiology, 2021, v. 42, n. 1, p. 210, doi. 10.1007/s00246-020-02472-2
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- Article
The molecular basis of glutamate formiminotransferase deficiency (Communicated by R. Garry Cutting).
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- Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236
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- Article
The molecular basis of glutamate formiminotransferase deficiencyCommunicated by R. Garry Cutting.
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- Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236
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- Article
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
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- 2021
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- journal article
Clinical Significance of Hypophosphatasemia in Children.
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- 2020
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- journal article
High-Level Expression of Alkaline Phosphatase by Adeno-Associated Virus Vector Ameliorates Pathological Bone Structure in a Hypophosphatasia Mouse Model.
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- 2020
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- journal article
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
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- 2020
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- journal article
Alkaline Phosphatase and Hypophosphatasia.
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- 2016
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- journal article
Prenatal diagnosis of Pompe disease by electron microscopy.
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- Archives of Gynecology & Obstetrics, 2005, v. 271, n. 3, p. 260, doi. 10.1007/s00404-004-0620-3
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- Article
Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02830-x
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- Article
Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.
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- 2024
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- Case Study
Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.
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- JCEM Case Reports, 2024, v. 2, n. 3, p. 1, doi. 10.1210/jcemcr/luae028
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- Article
Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.
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- Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2024, v. 5, n. 2, p. 205, doi. 10.1515/almed-2023-0102
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- Article
A case of type II fucosidosisdiagnosed with neuroradiological and dysmorphological findings.
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- Current Journal of Neurology, 2023, v. 22, n. 4, p. 265, doi. 10.18502/cjn.v22i4.14534
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- Article
ANTYCYPUJĄC PRZYSZŁOŚĆ – DIAGNOZA A DOŚWIADCZENIE W CHOROBACH RZADKICH W POLSCE.
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- LUD, 2023, v. 107, p. 10, doi. 10.12775/lud107.2023.01
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- Article
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.
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- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07828-z
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- Article
Genes y polimorfismos asociados a trastornos del metabolismo de los carbohidratos. Una revisión documental.
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- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 86, doi. 10.31260/RepertMedCir.01217372.1584
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- Article
Intervenciones de enfermería en puérpera con riesgo de sangrado en IPS-Barranquilla 2022-2.
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- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 7, doi. 10.31260/RepertMedCir.01217372.1584
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- Article
Terapia de reemplazo enzimático por 15 años en enfermedad de Pompe: reporte de caso.
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- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 7, doi. 10.31260/RepertMedCir.01217372.1584
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- Article
G6PD Deficiency: What is a Family Physician to do? Making Sense of the G6PD Mandate and its Implementation.
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- Family Doctor: A Journal of the New York State Academy of Family Physicians, 2022, v. 11, n. 2, p. 10
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- Article
Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks.
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- Turkish Journal of Medical Sciences, 2024, v. 54, n. 4, p. 710, doi. 10.55730/1300-0144.5840
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- Article
Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities.
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- Science Immunology, 2024, v. 9, n. 98, p. 1, doi. 10.1126/sciimmunol.adh0368
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- Article
AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
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- Hepatology Research, 2003, v. 26, n. 2, p. 154, doi. 10.1016/S1386-6346(03)00086-X
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- Article
Adult Psychiatric Diagnosis of Niemann-pick Disease Type C (Case Study).
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- European Psychiatry, 2015, v. 30, p. 991, doi. 10.1016/S0924-9338(15)30778-1
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- Article
Duplication 15q14 → pter: a rare chromosomal abnormality underlying bipolar affective disorder
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- European Psychiatry, 2004, v. 19, n. 3, p. 179, doi. 10.1016/j.eurpsy.2004.03.001
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- Article
Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
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- Journal of Neurogenetics, 2018, v. 32, n. 4, p. 295, doi. 10.1080/01677063.2018.1513509
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- Article
Nasljedna nepodnošljivost fruktoze - pregled literature i prikaz dvoje bolesnika.
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- Paediatria Croatica, 2021, v. 65, n. 1, p. 36, doi. 10.13112/pc.397
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- Article
Next generation sequencing - towards translation into clinical practice.
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- Paediatria Croatica, 2013, v. 57, n. 4, p. 295
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- Article
Levetiracetam as the First-line Antiepileptic in Neonatal Seizures.
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- Iranian Journal of Neonatology, 2020, v. 11, n. 4, p. 39, doi. 10.22038/ijn.2020.47926.1822
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- Article
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.
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- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 166, doi. 10.3390/brainsci15020166
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- Article
Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency.
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- 2022
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- Publication type:
- Case Study
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 65, doi. 10.3390/brainsci12010065
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- Article
Update on Neuropathies in Inborn Errors of Metabolism.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 763, doi. 10.3390/brainsci11060763
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- Article
Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 849, doi. 10.3390/brainsci10110849
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- Article
Single‐nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.
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- Clinical & Translational Medicine, 2024, v. 14, n. 10, p. 1, doi. 10.1002/ctm2.70043
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- Article
BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism.
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- Frontiers in Immunology, 2023, v. 13, p. 1, doi. 10.3389/fimmu.2022.1082192
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- Article
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.
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- Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01302
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- Article
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01052
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- Article
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00451
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- Article
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00086
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- Article
Renal Transplantation in Patients with Cystinosis – A Case Series.
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- Indian Journal of Transplantation, 2024, v. 18, n. 4, p. 436, doi. 10.4103/ijot.ijot_4_24
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- Article
Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii.
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- Clinical & Experimental Immunology, 2004, v. 137, n. 3, p. 578, doi. 10.1111/j.1365-2249.2004.02558.x
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- Article
Itraconazole antagonizes store-operated influx of calcium into chemoattractant-activated human neutrophils.
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- Clinical & Experimental Immunology, 2004, v. 136, n. 2, p. 255, doi. 10.1111/j.1365-2249.2004.02443.x
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- Article
Clinical outcome of hypogammaglobulinaemic patients following outbreak of acute hepatitis C: 2 year follow up.
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- Clinical & Experimental Immunology, 1997, v. 110, n. 1, p. 4, doi. 10.1111/j.1365-2249.1997.508-ce1412.x
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- Article