160 related articles for article (PubMed ID: 12483356)
1. A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis.
Aynaci FM; Cakir E; Aynaci O
Childs Nerv Syst; 2002 Dec; 18(12):707-11. PubMed ID: 12483356
[TBL] [Abstract][Full Text] [Related]
2. Craniosynostosis in Kabuki syndrome.
Martínez-Lage JF; Felipe-Murcia M; Navarro EG; Almagro MJ; López-Guerrero AL; Pérez-Espejo MA
J Neurosurg Pediatr; 2010 Aug; 6(2):198-201. PubMed ID: 20672944
[TBL] [Abstract][Full Text] [Related]
3. [Mucolipidosis: clinical and genetic aspects].
Kolodny EH
Rev Neurol; 1998 Aug; 27(156):337-41. PubMed ID: 9736966
[TBL] [Abstract][Full Text] [Related]
4. Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II).
Yamada H; Ohya M; Higeta T; Kinoshita S
Childs Nerv Syst; 1987; 3(1):55-7. PubMed ID: 3594472
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
AlBakheet A; Qari A; Colak D; Rasheed A; Kaya N; Al-Sayed M
Gene; 2013 Sep; 526(2):464-6. PubMed ID: 23685283
[TBL] [Abstract][Full Text] [Related]
6. [Mucolipidosis II or I-cell disease in the neonatal period].
Roche MC; Omeñaca F; del Hoyo ML; Arregui A; Escudero RM; Quero J
An Esp Pediatr; 1983 May; 18(5):388-93. PubMed ID: 6614673
[TBL] [Abstract][Full Text] [Related]
7. Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).
Beck M; Barone R; Hoffmann R; Kratzer W; Rakowsky T; Nigro F; Fiumara A
Clin Genet; 1995 Apr; 47(4):191-9. PubMed ID: 7628121
[TBL] [Abstract][Full Text] [Related]
8. Mucolipidosis II: first report from Saudi Arabia.
Alfadhel M; AlShehhi W; Alshaalan H; Al Balwi M; Eyaid W
Ann Saudi Med; 2013; 33(4):382-6. PubMed ID: 24060719
[TBL] [Abstract][Full Text] [Related]
9. Multiple-suture nonsyndromic craniosynostosis: early and effective management using endoscopic techniques.
Jimenez DF; Barone CM
J Neurosurg Pediatr; 2010 Mar; 5(3):223-31. PubMed ID: 20192637
[TBL] [Abstract][Full Text] [Related]
10. Familial lambdoid craniosynostosis between father and son.
Kadlub N; Persing JA; da Silva Freitas R; Shin JH
J Craniofac Surg; 2008 May; 19(3):850-4. PubMed ID: 18520419
[TBL] [Abstract][Full Text] [Related]
11. MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
Nur BG; Erdogan Y; Curek Y; Akcakus M; Oygur N; Bircan I; Mihci E
Genet Couns; 2016; 27(3):373-380. PubMed ID: 30204966
[TBL] [Abstract][Full Text] [Related]
12. Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.
Hurst JA; Winter RM; Baraitser M
Am J Med Genet; 1988 Jan; 29(1):107-15. PubMed ID: 3344763
[TBL] [Abstract][Full Text] [Related]
13. [Diagnosis and therapy of syndromic and non-syndromic craniosynostosis].
Cedzich C; Farmand M
HNO; 2003 Mar; 51(3):198-208. PubMed ID: 12627247
[TBL] [Abstract][Full Text] [Related]
14. Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome?
Samson G; Gardner JC
Am J Med Genet; 1996 Jan; 61(2):174-7. PubMed ID: 8669448
[TBL] [Abstract][Full Text] [Related]
15. Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature.
Lin MH; Pitukcheewanont P
J Pediatr Endocrinol Metab; 2012; 25(1-2):191-5. PubMed ID: 22570975
[TBL] [Abstract][Full Text] [Related]
16. [Familial mucolipidosis type II (I-cell disease)].
Stopyrowa J; Pietrzyk JA; Fyderek K; Spodaryk M; Barylak A; Miezyński W; Kaczmarski F
Pol Tyg Lek; 1988 Sep; 43(39):1256-9. PubMed ID: 3244584
[No Abstract] [Full Text] [Related]
17. Absence of the anterior fontanelle due to a fontanellar bone.
Woods RH; Johnson D
J Craniofac Surg; 2010 Mar; 21(2):448-9. PubMed ID: 20216454
[TBL] [Abstract][Full Text] [Related]
18. Beare-Stevenson cutis gyrata syndrome with Chiari malformation.
Wang TJ; Hung KS; Chen PK; Chuang WL; Shih TY; Lai BJ; Hsiao M
Acta Neurochir (Wien); 2002 Jul; 144(7):743-5. PubMed ID: 12181710
[No Abstract] [Full Text] [Related]
19. Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome.
Gupta AK; Divekar DS; Shah B; Dhulkhed VK
Paediatr Anaesth; 2010 Aug; 20(8):771-3. PubMed ID: 20670243
[No Abstract] [Full Text] [Related]
20. Aicardi's syndrome: a new finding.
Cihangiroglu M; Franca C; Ramsey RG
Pediatr Radiol; 2000 Jul; 30(7):499-500. PubMed ID: 10929374
[No Abstract] [Full Text] [Related]
[Next] [New Search]
