Found: 24
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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
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- Publication type:
- Article
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 19, doi. 10.3390/ijns10010019
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- Publication type:
- Article
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 45, doi. 10.3390/ijns9030045
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- Publication type:
- Article
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders.
- Published in:
- Antioxidants, 2023, v. 12, n. 3, p. 718, doi. 10.3390/antiox12030718
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- Publication type:
- Article
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes.
- Published in:
- Epilepsia Open, 2021, v. 6, n. 4, p. 685, doi. 10.1002/epi4.12534
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- Publication type:
- Article
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 15, doi. 10.1002/jmd2.12220
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- Publication type:
- Article
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
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- Publication type:
- Article
The epileptology of GNB5 encephalopathy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 11, p. e121, doi. 10.1111/epi.16372
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- Publication type:
- Article
A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 23, doi. 10.1002/jmd2.12032
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- Publication type:
- Article
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 1, p. 63, doi. 10.1002/epi4.12282
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- Publication type:
- Article
Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivors.
- Published in:
- Journal of Neuro-Oncology, 2019, v. 141, n. 2, p. 393, doi. 10.1007/s11060-018-03045-3
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- Publication type:
- Article
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0056-5
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- Publication type:
- Article
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
International Paediatric Mitochondrial Disease Scale.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 705, doi. 10.1007/s10545-016-9948-7
- By:
- Publication type:
- Article
Mitochondrial disorders in children: toward development of small-molecule treatment strategies.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 311, doi. 10.15252/emmm.201506131
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- Publication type:
- Article
Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong.
- Published in:
- SCIENCE CHINA Life Sciences, 2015, v. 58, n. 10, p. 991, doi. 10.1007/s11427-012-4294-y
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- Publication type:
- Article
Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126446
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- Publication type:
- Article
Nephrological abnormalities in patients with transaldolase deficiency.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 8, p. 3224, doi. 10.1093/ndt/gfs061
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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
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Topiramate-Valproate-Induced Hyperammonemic Encephalopathy Syndrome: Case Report.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 2, p. 157, doi. 10.1177/08830738050200022001
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- Publication type:
- Article
Spectrum of Anticonvulsant Hypersensitivity Syndrome: Controversy of Treatment.
- Published in:
- Journal of Child Neurology, 2004, v. 19, n. 8, p. 619, doi. 10.1177/088307380401900810
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- Publication type:
- Article