Works matching DE "INBORN errors of metabolism"
Results: 2219
Extracorporeal pediatric renal replacement therapy: diversifying application beyond kidney failure.
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- Pediatric Nephrology, 2025, v. 40, n. 4, p. 923, doi. 10.1007/s00467-024-06533-z
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- Publication type:
- Article
The multifaceted challenges faced by women in the field of inherited metabolic disorders.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03604-8
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- Publication type:
- 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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- Publication type:
- Article
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG).
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 1, p. 24, doi. 10.1515/tjb-2024-0011
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- Publication type:
- Article
The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development.
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- Molecules, 2025, v. 30, n. 4, p. 839, doi. 10.3390/molecules30040839
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- Publication type:
- Article
Vitamin C: From Self-Sufficiency to Dietary Dependence in the Framework of Its Biological Functions and Medical Implications.
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- Life (2075-1729), 2025, v. 15, n. 2, p. 238, doi. 10.3390/life15020238
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- Publication type:
- Article
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
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- Science Translational Medicine, 2025, v. 17, n. 787, p. 1, doi. 10.1126/scitranslmed.ads0539
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- Publication type:
- Article
Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03602-w
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- Publication type:
- Article
Baseline survey for malaria prevalence in Khyber Pakhtunkhwa Province, Pakistan.
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- Eastern Mediterranean Health Journal, 2021, v. 27, n. 6, p. 638, doi. 10.26719/emhj.19.015
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- Article
A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care.
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- Eastern Mediterranean Health Journal, 2018, v. 24, n. 11, p. 1103, doi. 10.26719/emhj.18.056
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- Publication type:
- Article
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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- Publication type:
- Article
Present Status and Future Concerns of Expanded Newborn Screening in Malaysia: Sustainability, Challenges and Perspectives.
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- Malaysian Journal of Medical Sciences, 2014, v. 21, n. 2, p. 64
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- Publication type:
- Article
Anderson-Fabry disease in Austria.
- Published in:
- Wiener Klinische Wochenschrift, 2003, v. 115, n. 7/8, p. 235, doi. 10.1007/BF03040321
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- Publication type:
- Article
Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 5, p. 371, doi. 10.2350/14-06-1519-PB.1
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- Publication type:
- Article
Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria.
- Published in:
- 2010
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- 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.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 453, doi. 10.1007/s10024-005-0025-8
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- Publication type:
- Article
Localization of β2-microglobulin in the term villous syncytiotrophoblast.
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- Histochemistry & Cell Biology, 2002, v. 117, n. 2, p. 187, doi. 10.1007/s00418-001-0366-y
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- Publication type:
- Article
Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
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- Archives of Dermatological Research, 2019, v. 311, n. 9, p. 721, doi. 10.1007/s00403-019-01953-6
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- Publication type:
- Article
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
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- 2021
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- Publication type:
- journal article
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis.
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- 2018
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- Publication type:
- journal article
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
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- 2017
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- Publication type:
- journal article
A Case of Potential Inborn Error of Metabolism as a Cause of Young Onset Psychosis.
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- 2021
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- Publication type:
- Case Study
An infant with Cholestasis and Refractory Electrolyte Abnormalities.
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- Asian Journal of Pediatric Nephrology, 2022, v. 5, n. 1, p. 43, doi. 10.4103/ajpn.ajpn_36_21
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- Publication type:
- Article
Pediatric Tubular and Inherited Disorders in Asia: Results of Preliminary Survey of the Asian Pediatric Nephrology Association (AsPNA) Tubular and Inherited Working Group.
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- Asian Journal of Pediatric Nephrology, 2022, v. 5, n. 1, p. 14, doi. 10.4103/ajpn.ajpn_2_22
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- Publication type:
- Article
Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07070-z
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- Publication type:
- Article
Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.
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- Global Pediatric Health, 2024, p. 1, doi. 10.1177/2333794X241280830
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- Publication type:
- Article
Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.
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- 2024
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- Publication type:
- Case Study
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
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- Human Genetics, 2022, v. 141, n. 7, p. 1299, doi. 10.1007/s00439-021-02386-w
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- Publication type:
- Article
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
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- Human Genetics, 2022, v. 141, n. 7, p. 1269, doi. 10.1007/s00439-021-02358-0
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- Publication type:
- Article
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.
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- 2020
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- Publication type:
- Letter
Special issue on "Feto-Maternal Genomic Medicine": a decade of incredible advances.
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- 2020
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- Publication type:
- Editorial
Maternal genetic diseases: potential concerns for mother and baby.
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- Human Genetics, 2020, v. 139, n. 9, p. 1173, doi. 10.1007/s00439-019-02086-6
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- Publication type:
- Article
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
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- PeerJ, 2024, p. 1, doi. 10.7717/peerj.18173
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- Publication type:
- Article
Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver's quality of life.
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- PeerJ, 2017, p. 1, doi. 10.7717/peerj.4097
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- Publication type:
- Article
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2527, doi. 10.1007/s10072-023-06699-8
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- Publication type:
- Article
Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).
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- 2021
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- Publication type:
- journal article
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
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- Neurological Sciences, 2021, v. 42, n. 3, p. 1103, doi. 10.1007/s10072-021-05067-8
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- Publication type:
- Article
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
- Published in:
- 2018
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- Publication type:
- journal article
Pseudo-dominant inheritance in Wilson's disease.
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- 2016
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- Publication type:
- Letter
Acylcarnitines in health and disease: biomarkers and drug targets.
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- Macedonian Pharmaceutical Bulletin / Makedonsko Farmacevtski Bilten, 2022, v. 68, p. 19, doi. 10.33320/maced.pharm.bull.2022.68.03.006
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- Publication type:
- Article
Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.
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- Quality of Life Research, 2024, v. 33, n. 12, p. 3323, doi. 10.1007/s11136-024-03775-0
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- Publication type:
- Article
Inmunodeficiencias primarias por déficit de IgA. Heterogeneidad clínica y reto diagnóstico.
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- Revista de Ciencias Médicas de Pinar del Río, 2023, v. 27, p. 1
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- Publication type:
- Article
A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries.
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- African Journal of Laboratory Medicine, 2023, v. 12, n. 1, p. 1, doi. 10.4102/ajlm.v12i1.1946
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- Publication type:
- Article
Carnitine palmitoyl transferase 1A deficiency: A disease in disguise - a case report.
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- Medica Innovatica, 2019, v. 8, n. 2, p. 38
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- Publication type:
- Article
GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN.
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- Khyber Medical University Journal, 2022, v. 14, n. 1, p. 71, doi. 10.35845/kmuj.2022.21984
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- Publication type:
- Article
Metabolic Storage Disorders at a Tertiary Care Hospital, Pakistan.
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- Journal of Liaquat University of Medical & Health Sciences, 2023, v. 22, n. 4, p. 277, doi. 10.22442/jlumhs.2023.01016
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- Publication type:
- Article
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-78105-y
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- Publication type:
- Article
Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 65, doi. 10.3390/brainsci12010065
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- Publication type:
- 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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- Publication type:
- Article