Found: 97
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Nocturnal apnea in Chiari type I malformation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Clinical practice: swallowing problems in cerebral palsy.
- Published in:
- 2012
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- Publication type:
- journal article
Clinical practice.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 3, p. 409, doi. 10.1007/s00431-011-1570-y
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- Publication type:
- 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
The growing skull fracture, a rare complication of paediatric head injury.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 556, doi. 10.1007/s00431-003-1256-1
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- Publication type:
- Article
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
De novo SPAST mutations may cause a complex SPG4 phenotype.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Serum inflammatory mediators correlate with disease activity in electrical status epilepticus in sleep (ESES) syndrome.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 2, p. e45, doi. 10.1111/epi.13274
- By:
- Publication type:
- Article
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2406, doi. 10.1111/j.1528-1167.2010.02747.x
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- Publication type:
- Article
Variable Selection in Untargeted Metabolomics and the Danger of Sparsity.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 11, p. 470, doi. 10.3390/metabo10110470
- By:
- Publication type:
- Article
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
- Published in:
- Cephalalgia, 2015, v. 35, n. 1, p. 10, doi. 10.1177/0333102414532379
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- 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
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- Publication type:
- Article
Lactate infusion as therapeutical intervention: a scoping review.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 6, p. 2227, doi. 10.1007/s00431-022-04446-3
- 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
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- Publication type:
- 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
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
- Published in:
- Nature Medicine, 2006, v. 12, n. 3, p. 307, doi. 10.1038/nm1366
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- Publication type:
- Article
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
- Published in:
- 2011
- By:
- Publication type:
- journal 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
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- Publication type:
- Article
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.
- Published in:
- Journal of Perinatal Medicine, 2018, v. 46, n. 5, p. 523, doi. 10.1515/jpm-2017-0187
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- Publication type:
- Article
Pulmonary function tests in patients with ataxia-telangiectasia: Obstructive or restrictive lung dysfunction?
- Published in:
- Pediatric Pulmonology, 2010, v. 45, n. 10, p. 1043, doi. 10.1002/ppul.21276
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- 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
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- Publication type:
- Article
Ataxia-Telangiectasia and mechanical ventilation: A word of caution.
- Published in:
- Pediatric Pulmonology, 2009, v. 44, n. 1, p. 101, doi. 10.1002/ppul.20957
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- Publication type:
- Article
Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/2051-5960-2-41
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- Publication type:
- Article
Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042745
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- 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
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Callosal alterations in pyridoxine-dependent epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 11, p. 1106, doi. 10.1111/dmcn.12511
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- Publication type:
- Article
Long-term outcome in pyridoxine-dependent epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 9, p. 849, doi. 10.1111/j.1469-8749.2012.04347.x
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- Publication type:
- Article
Sjögren–Larsson syndrome: motor performance and everyday functioning in 17 patients.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 1, p. 38, doi. 10.1111/j.1469-8749.2007.02013.x
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- 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
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- Publication type:
- Article
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
- Published in:
- Journal of Magnetic Resonance Imaging, 2013, v. 37, n. 4, p. 974, doi. 10.1002/jmri.23852
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- Publication type:
- Article
Small Biparietal Diameter and Head Circumference Are Part of the Phenotype instead of Independent Prognostic Markers in Fetuses with Spinal Dysraphism.
- Published in:
- Fetal Diagnosis & Therapy, 2015, v. 37, n. 2, p. 135, doi. 10.1159/000366157
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- 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
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- Publication type:
- Article
Homozygosity mapping in outbred families with mental retardation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167
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- 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
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- Publication type:
- Article
Parents' experiences with a home-based upper limb training program using a video coaching approach for infants and toddlers with unilateral cerebral palsy: a qualitative interview study.
- Published in:
- 2022
- 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
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- 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
A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 31, doi. 10.1002/jmd2.12060
- By:
- Publication type:
- Article
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 11, p. 1440, doi. 10.1001/jamaneurol.2013.3090
- By:
- Publication type:
- 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
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- Publication type:
- Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
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- Publication type:
- Article
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1810, doi. 10.1093/brain/awq087
- By:
- Publication type:
- Article
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
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- Publication type:
- Article
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review<sup>1</sup>.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 17, doi. 10.3233/JND-221653
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- Publication type:
- Article
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 641, doi. 10.3233/JND-220803
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- Publication type:
- Article