Found: 37
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Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 4, p. 422, doi. 10.1002/ana.21199
- By:
- Publication type:
- Article
Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 653
- By:
- Publication type:
- Article
Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 4, p. 552, doi. 10.1002/1531-8249(200004)47:4<552::AID-ANA28>3.0.CO;2-0
- By:
- Publication type:
- Article
Letter to the editor: Ataxia-Telangiectasia and mechanical ventilation: A word of caution.
- Published in:
- Pediatric Pulmonology, 2009, v. 44, n. 2, p. 202, doi. 10.1002/ppul.20999
- By:
- Publication type:
- Article
Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 1, p. 83, doi. 10.1007/s00431-023-05309-1
- By:
- Publication type:
- Article
Clinical practice: swallowing problems in cerebral palsy.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Nocturnal apnea in Chiari type I malformation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 2, p. 255, doi. 10.2340/00015555-2195
- By:
- Publication type:
- Article
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02818-y
- By:
- Publication type:
- Article
Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?
- Published in:
- 2008
- By:
- Publication type:
- Report
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04343-w
- By:
- Publication type:
- Article
Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 7, p. e663, doi. 10.1111/aos.13042
- By:
- Publication type:
- Article
Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 2, p. 138, doi. 10.1111/aos.12092
- By:
- Publication type:
- Article
Predicting non‐response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities.
- Published in:
- Developmental Medicine & Child Neurology, 2024, v. 66, n. 7, p. 919, doi. 10.1111/dmcn.15837
- By:
- Publication type:
- Article
Long‐term outcomes for females with early‐onset dystrophinopathy.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 8, p. 1093, doi. 10.1111/dmcn.15496
- By:
- Publication type:
- Article
Dysarthria in children and adults with ataxia telangiectasia.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 4, p. 450, doi. 10.1111/dmcn.14811
- By:
- Publication type:
- Article
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
- By:
- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
- By:
- Publication type:
- Article
Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 6, p. 701, doi. 10.1002/mus.27406
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- Publication type:
- Article
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
- Published in:
- Nature Medicine, 2006, v. 12, n. 3, p. 307, doi. 10.1038/nm1366
- By:
- Publication type:
- Article
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
- Published in:
- BMC Ophthalmology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2415-14-59
- By:
- Publication type:
- Article
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 114, doi. 10.1002/jmd2.12194
- By:
- Publication type:
- Article
Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 61, doi. 10.1002/jmd2.12099
- By:
- Publication type:
- Article
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 417, doi. 10.1002/jimd.12657
- By:
- Publication type:
- Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
- By:
- Publication type:
- Article
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
- By:
- Publication type:
- Article
Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1112, doi. 10.1002/jimd.12253
- By:
- Publication type:
- Article
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 3, p. 830, doi. 10.1007/s00415-019-09641-1
- By:
- Publication type:
- Article
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional <sup>1</sup>H and two-dimensional <sup>1</sup>H-<sup>13</sup>C NMR.
- Published in:
- NMR in Biomedicine, 2005, v. 18, n. 5, p. 331, doi. 10.1002/nbm.966
- By:
- Publication type:
- Article
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial.
- Published in:
- Occupational Therapy International, 2023, p. 1, doi. 10.1155/2023/8128407
- By:
- Publication type:
- Article
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
- Published in:
- Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02438
- By:
- Publication type:
- Article