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The following terms were not found in PubMed: ichthyosis-intellectual, disability-spastic
Page 1
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Lamari F, Mochel F, Sedel F, Saudubray JM. Lamari F, et al. J Inherit Metab Dis. 2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20. J Inherit Metab Dis. 2013. PMID: 22814679 Review.
Infantile epilepsy has been reported in GM3 synthetase deficiency. Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larsson syndrome caused by fatty aldehyde dehydrogenase deficien …
Infantile epilepsy has been reported in GM3 synthetase deficiency. Spastic quadriplegia with ichthyosis and intellectual disability a …
Respiratory neuromodulation in patients with neurological pathologies: for whom and how?
Gonzalez-Bermejo J, LLontop C, Similowski T, Morélot-Panzini C. Gonzalez-Bermejo J, et al. Ann Phys Rehabil Med. 2015 Sep;58(4):238-244. doi: 10.1016/j.rehab.2015.07.001. Epub 2015 Aug 8. Ann Phys Rehabil Med. 2015. PMID: 26260006 Free article. Review.
This is the case for quadriplegic patients with a high spinal cord injury level and for patients with congenital central hypoventilation syndrome. The electrophysiological diaphragm explorations permits better patient selection, confirming on the one hand a definite …
This is the case for quadriplegic patients with a high spinal cord injury level and for patients with congenital central hypoventilat …
Update on Sjogren-Larsson syndrome.
Lacour M. Lacour M. Dermatology. 1996;193(2):77-82. doi: 10.1159/000246217. Dermatology. 1996. PMID: 8884139 Review.
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or quadriplegia …
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty ald …
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
Wang C, He G, Ge Y, Li R, Li Z, Lin Y. Wang C, et al. Mol Genet Genomic Med. 2020 Jun;8(6):e1235. doi: 10.1002/mgg3.1235. Epub 2020 Apr 7. Mol Genet Genomic Med. 2020. PMID: 32255274 Free PMC article. Review.
BACKGROUND: Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ...
BACKGROUND: Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe pr …
Sjogren-Larsson syndrome: a case report and literature review.
Alió AB, Bird LM, McClellan SD, Cunningham BB. Alió AB, et al. Cutis. 2006 Jul;78(1):61-5. Cutis. 2006. PMID: 16903323 Review.
Sjogren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. ...These findings support …
Sjogren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population an …
[Etiological aspects of orthostatic hypotension].
Blétry O. Blétry O. Rev Med Interne. 1992 Nov;13(6):430-7. Rev Med Interne. 1992. PMID: 1344926 Review. French.
The principal causes of variable pulse OH are therapeutic drugs, absolute or relative hypovolaemia, endocrine diseases (adrenal insufficiency, phaeochromocytoma), spinal quadriplegia and two congenital diseases including dopamine beta-hydroxylase deficiency. In Guil …
The principal causes of variable pulse OH are therapeutic drugs, absolute or relative hypovolaemia, endocrine diseases (adrenal insufficienc …
Cervical spinal stenosis with cord neurapraxia and transient quadriplegia.
Torg JS. Torg JS. Clin Sports Med. 1990 Apr;9(2):279-96. Clin Sports Med. 1990. PMID: 2183946 Review.
The purpose of this article is to define as a distinct clinical entity, the syndrome of cervical spinal cord neurapraxia with transient quadriplegia. ...Those with developmental spinal stenosis or spinal stenosis associated with congenital abnormalities shoul …
The purpose of this article is to define as a distinct clinical entity, the syndrome of cervical spinal cord neurapraxia with transie …
Symptomatic spinal intradural arachnoid cysts in the pediatric age group: description of three new cases and review of the literature.
Lee HJ, Cho DY. Lee HJ, et al. Pediatr Neurosurg. 2001 Oct;35(4):181-7. doi: 10.1159/000050419. Pediatr Neurosurg. 2001. PMID: 11694795 Review.
The first cyst was located at the level T12-L1 and compressed the conus medullaris, with neurogenic bladder and cauda equina syndrome for 2 months. The second was located at the level C5-T1 ventrally, with spastic gait and neurogenic bladder for 4 years. The other was loca …
The first cyst was located at the level T12-L1 and compressed the conus medullaris, with neurogenic bladder and cauda equina syndrome …
Spinal considerations in the young athlete.
Pizzutillo PD. Pizzutillo PD. Instr Course Lect. 1993;42:463-72. Instr Course Lect. 1993. PMID: 8463696 Review.
While a variety of factors are operant that could contribute to difficulty in evaluation and treatment, an organized approach with an emphasis on naturally-occurring variations of the immature spine will allow for appropriate recommendations. While concern exists regarding the in …
While a variety of factors are operant that could contribute to difficulty in evaluation and treatment, an organized approach with an emphas …