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Items: 1 to 20 of 166

1.

Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome.

Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S.

Tohoku J Exp Med. 2007 Jan;211(1):95-6; author reply 97. No abstract available.

2.

Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum.

Wakusawa K, Haginoya K, Kitamura T, Togashi N, Ishitobi M, Yokoyama H, Higano S, Onuma A, Nara T, Iinuma K.

Tohoku J Exp Med. 2006 Jun;209(2):163-7.

3.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case.

Mercimek-Mahmutoglu S, van der Knaap MS, Baric I, Prayer D, Stoeckler-Ipsiroglu S.

Neuropediatrics. 2005 Jun;36(3):223-6.

PMID:
15944912
4.

Hypomyelination with atrophy of the basal ganglia and cerebellum: case report.

Matta AP, Ribas MC.

Arq Neuropsiquiatr. 2007 Mar;65(1):161-3.

5.

Cerebral folate deficiency: life-changing supplementation with folinic acid.

Hansen FJ, Blau N.

Mol Genet Metab. 2005 Apr;84(4):371-3. Epub 2005 Jan 22.

PMID:
15781200
6.

[A boy with hypomyelination with atrophy of the basal ganglia and cerebellum].

Hattori A, Ando N, Fujimoto S, Kobayashi S, Ishikawa T, Togari H.

No To Hattatsu. 2010 Jan;42(1):42-4. Japanese.

PMID:
23858611
7.

The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum.

Wakusawa K, Uematsu M, Tsuchiya S, Haginoya K, Blau N.

Tohoku J Exp Med. 2007 Dec;213(4):373. No abstract available.

8.

Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.

Al-Baradie RS, Chaudhary MW.

Neurosciences (Riyadh). 2014 Oct;19(4):312-6.

9.

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.

van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S.

Neurology. 2007 Jul 10;69(2):166-71.

PMID:
17620549
10.

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J.

AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74.

11.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F.

Neurology. 2005 Mar 22;64(6):1088-90.

PMID:
15781839
12.

Cerebral folate deficiency.

Hyland K, Shoffner J, Heales SJ.

J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29. Review.

PMID:
20668945
13.

[Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity].

Tomás-Vila M, Menor F, Ley-Martos M, Jumillas-Luján MJ, Marco-Hernández AV, Barbero P.

Rev Neurol. 2014 Feb 16;58(4):161-5. Spanish.

14.

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N, Fukushima Y.

Clin Dysmorphol. 2011 Jul;20(3):166-7. doi: 10.1097/MCD.0b013e32834659a8. No abstract available.

PMID:
21471810
15.

A new form of cerebral folate deficiency with severe self-injurious behaviour.

Leuzzi V, Mastrangelo M, Celato A, Carducci C, Carducci C.

Acta Paediatr. 2012 Nov;101(11):e482-3. doi: 10.1111/j.1651-2227.2012.02800.x. Epub 2012 Sep 13. No abstract available.

PMID:
22861007
16.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS.

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

17.

Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R.

Arch Neurol. 2011 May;68(5):615-21. doi: 10.1001/archneurol.2011.80.

PMID:
21555636
18.

Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.

Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D.

Neurology. 2005 Jun 28;64(12):2151-2. No abstract available.

PMID:
15985595
19.

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F.

Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.

PMID:
20065143
20.

[Diagnosis and treatment of cerebral folate deficiency].

Wang Q, Yang YL.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):874-7. Review. Chinese. No abstract available.

PMID:
23302625
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