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Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome.
- Published in:
- 2001
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- Publication type:
- journal article
Botulinum toxin A: a new option for treatment of drooling in children with cerebral palsy. Presentation of a case series.
- Published in:
- 2001
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- Publication type:
- journal article
Drooling in cerebral palsy: hypersalivation or dysfunctional oral motor control?
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 6, p. 454, doi. 10.1111/j.1469-8749.2008.03243.x
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- Publication type:
- Article
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 345, doi. 10.1023/A:1005313524869
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- Publication type:
- Article
Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 339, doi. 10.1023/A:1005309423960
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- Publication type:
- Article
Abnormal lipid profile and hyperinsulinaemia after a mixed meal: additional cardiovascular risk factors in young adults born preterm.
- Published in:
- Diabetologia, 2008, v. 51, n. 7, p. 1269, doi. 10.1007/s00125-008-1029-5
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- Publication type:
- Article
Clinical practice: swallowing problems in cerebral palsy.
- Published in:
- 2012
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- Publication type:
- journal article
Social interaction and self-esteem of children with cerebral palsy after treatment for severe drooling.
- Published in:
- 2006
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- Publication type:
- journal article
Neonatal risk factors and risk scores including auditory evoked responses.
- Published in:
- 1998
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- Publication type:
- journal article
Serum procollagen I carboxyterminal propeptide (PICP) levels through puberty: relation to height velocity and serum hormone levels.
- Published in:
- 1997
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- Publication type:
- journal article
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 465, doi. 10.1007/s00439-021-02336-6
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- Publication type:
- Article
Lean mass and fat mass accretion between term age and 6 months post-term in growth-restricted preterm infants.
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- European Journal of Clinical Nutrition, 2014, v. 68, n. 11, p. 1261, doi. 10.1038/ejcn.2014.182
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- Publication type:
- Article
Multi-Magnet Cochlear Implant Technology and Magnetic Resonance Imaging: The Safety Issue.
- Published in:
- Audiology Research, 2024, v. 14, n. 3, p. 401, doi. 10.3390/audiolres14030034
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- Publication type:
- Article
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1578, doi. 10.1002/ajmg.a.62669
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- Publication type:
- Article
The treatment of drooling by ultrasound-guided intraglandular injections of botulinum toxin type A into the salivary glands.
- Published in:
- 2003
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- Publication type:
- journal article
The Treatment of Drooling by Ultrasound-Guided Intraglandular Injections of Botulinum Toxin Type A Into the Salivary Glands.
- Published in:
- Laryngoscope, 2003, v. 113, n. 1, p. 107, doi. 10.1097/00005537-200301000-00020
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- Publication type:
- Article
Bone mineral density in children and adolescents with prader-willi syndrome: a longitudinal study during puberty and 9 years of growth hormone treatment.
- Published in:
- 2015
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- Publication type:
- Journal Article
Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.
- Published in:
- 2013
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- Publication type:
- journal article
Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.
- Published in:
- 2012
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- Publication type:
- Journal Article
Helping the helpers. A unique colleague support system for mental health professionals-consumers.
- Published in:
- 1995
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- Publication type:
- Journal Article
Cochlear Implantation in 3 Patients with Osteogenesis Imperfecta: Imaging, Surgery and Programming Issues.
- Published in:
- Audiology & Neurotology, 2008, v. 13, n. 2, p. 73, doi. 10.1159/000111779
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- Publication type:
- Article
Botulinum toxin versus submandibular duct relocation for severe drooling.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 11, p. 1038, doi. 10.1111/j.1469-8749.2010.03713.x
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- Publication type:
- Article
Thickened saliva after effective management of drooling with botulinum toxin A.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 6, p. e114, doi. 10.1111/j.1469-8749.2009.03601.x
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- Publication type:
- Article
Compound muscle action potentials in newborn infants with spina bifida.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 9, p. 706, doi. 10.1111/j.1469-8749.2008.03041.x
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- Publication type:
- Article
Sjögren-Larsson syndrome: motor performance and everyday functioning in 17 patients.
- Published in:
- 2008
- By:
- Publication type:
- Journal Article
A descriptive analysis of studies on behavioural treatment of drooling (1970–2005).
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 5, p. 390, doi. 10.1111/j.1469-8749.2007.00390.x
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- Publication type:
- Article
Drooling in children with cerebral palsy: effect of salivary flow reduction on daily life and care.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 2, p. 103, doi. 10.1017/S0012162206000235
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- Publication type:
- Article
Development and malformations of the human pyramidal tract.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 12, p. 1429, doi. 10.1007/s00415-004-0653-3
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- Publication type:
- Article
The influence of position-dependency on surgical success in sleep apnea surgery — a systematic review.
- Published in:
- Sleep & Breathing, 2020, v. 24, n. 2, p. 433, doi. 10.1007/s11325-019-01935-y
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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
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
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- Publication type:
- Article
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
- Published in:
- Human Genetics, 2018, v. 137, n. 5, p. 389, doi. 10.1007/s00439-018-1880-5
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- Publication type:
- Article
Fragmented Visuospatial Processing in Children with Pervasive Developmental Disorder.
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- Journal of Autism & Developmental Disorders, 2006, v. 36, n. 8, p. 1025, doi. 10.1007/s10803-006-0140-z
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- Publication type:
- Article
Insulin Resistance and the Metabolic Syndrome in Obese Children Referred to an Obesity Center.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 9, p. 943, doi. 10.1515/jpem.2010.151
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- Publication type:
- Article
Decreased insulin sensitivity in small for gestational age males treated with GH and preterm untreated males: a study in young adults.
- Published in:
- European Journal of Endocrinology, 2008, v. 158, n. 6, p. 899, doi. 10.1530/EJE-08-0152
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- Publication type:
- Article
Metabolic implications of GH treatment in small for gestational age.
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- European Journal of Endocrinology, 2007, v. 157, p. S47, doi. 10.1530/EJE-07-0163
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- Publication type:
- Article
Abnormal Venous System in Occipital Meningoencephalocele: MR Angiography.
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- Pediatric Neurosurgery, 1995, v. 23, n. 5, p. 270, doi. 10.1159/000120970
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- Publication type:
- Article
The prognostic value of the EEG in asphyxiated newborns.
- Published in:
- Acta Neurologica Scandinavica, 1995, v. 91, n. 3, p. 203, doi. 10.1111/j.1600-0404.1995.tb00435.x
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- Publication type:
- Article
Distress and post-traumatic stress in parents of patients with congenital gastrointestinal malformations: a cross-sectional cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02502-7
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- Publication type:
- Article
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Mongolian Spots in Sjögren-Larsson Syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Letter
A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 112, n. 5, p. 827, doi. 10.1046/j.1523-1747.1999.00574.x
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- Publication type:
- Article
Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 653
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- Publication type:
- Article
Fright is a provoking factor in vanishing white matter disease.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 560
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- Publication type:
- Article
Imaging for Pediatric Unilateral Sensorineural Hearing Loss-Reply.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Between Current Implications and Future Perspectives.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Inner Ear Malformations and Unilateral Sensorineural Hearing Loss-the Elephant in the Room-Reply.
- Published in:
- 2019
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- Publication type:
- journal article
Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Urine Gonadotropin and Testosterone Levels in Male Very-Low-Birthweight Infants.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 173, doi. 10.1159/000342860
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- Publication type:
- Article