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Results: 1 to 20 of 103

Similar articles for PubMed (Select 24665318)

1.

Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series).

Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, Taghdiri MM, Tonekaboni SH.

Iran J Child Neurol. 2013 Fall;7(4):47-52.

2.

Methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an Iranian pediatric case series).

Karimzadeh P, Jafari N, Ahmad Abadi F, Jabbedari S, Taghdiri MM, Nemati H, Saket S, Shariatmadari SF, Alaee MR, Ghofrani M, Tonekaboni SH.

Iran J Child Neurol. 2013 Summer;7(3):63-6.

3.

Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.

Karimzadeh P, Jafari N, Ahmad Abadi F, Jabbedari S, Taghdiri MM, Alaee MR, Ghofrani M, Tonekaboni SH, Nejad Biglari H.

Iran J Child Neurol. 2014 Winter;8(1):58-61.

4.

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S, Tonekaboni SH, Taghdiri MM, Ghofrani M.

Iran J Child Neurol. 2014 Summer;8(3):55-60.

5.

Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients.

Karimzadeh P, Jafari N, Alai M, Jabbehdari S, Nejad Biglari H.

Iran J Child Neurol. 2015 Winter;9(1):94-8.

6.

Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.

Desai S, Ganesan K, Hegde A.

Pediatr Radiol. 2008 Aug;38(8):848-56. doi: 10.1007/s00247-008-0904-z. Epub 2008 Jun 11.

PMID:
18545994
7.

[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].

Yang YL, Yamaguchi S, Tagami Y, Zhang YH, Xiong H, Hasegawa Y, Kimura M, Hanai J, Fujita K, Qian N, He XJ, Wu Y, Bao XH, Qin J, Wu X.

Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):249-51. Chinese.

PMID:
14754524
8.

Biotinidase deficiency: a treatable genetic disorder in the Saudi population.

Joshi S, al-Essa MA, Archibald A, Ozand PT.

East Mediterr Health J. 1999 Nov;5(6):1213-7.

PMID:
11924114
9.

[Biotinidase deficiency. Progressive encephalopathy curable with biotin].

Héron B, Gautier A, Dulac O, Ponsot G.

Arch Fr Pediatr. 1993 Dec;50(10):875-8. French.

PMID:
8053766
10.

Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.

Ananth N, Praveen Kumar GS.

Indian J Clin Biochem. 2003 Jul;18(2):23-6. doi: 10.1007/BF02867363.

11.

Phenotypic variation in biotinidase deficiency.

Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL, Parker WD, Howell DM, Hurst DL.

J Pediatr. 1983 Aug;103(2):233-7.

PMID:
6875714
12.

Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.

Coşkun T, Tokatli A, Ozalp I.

Turk J Pediatr. 1994 Oct-Dec;36(4):267-78.

PMID:
7825232
13.

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

Baumgartner ER, Suormala T.

Int J Vitam Nutr Res. 1997;67(5):377-84. Review.

PMID:
9350481
14.

A case of partial biotinidase deficiency associated with autism.

Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L.

Child Neuropsychol. 2003 Sep;9(3):184-8.

PMID:
13680408
15.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PMID:
21752405
16.

Audiologic findings in children with biotinidase deficiency in Turkey.

Genc GA, Sivri-Kalkanoğlu HS, Dursun A, Aydin HI, Tokatli A, Sennaroglu L, Belgin E, Wolf B, Coşkun T.

Int J Pediatr Otorhinolaryngol. 2007 Feb;71(2):333-9. Epub 2006 Dec 11.

PMID:
17161472
17.

Biotinidase deficiency: initial clinical features and rapid diagnosis.

Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT.

Ann Neurol. 1985 Nov;18(5):614-7.

PMID:
4073853
18.

The neurology of biotinidase deficiency.

Wolf B.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001. Epub 2011 Jun 12. Review.

PMID:
21696988
19.

Biotinidase deficiency: an atypical presentation.

Jagadeesh S, Suresh B, Seshadri S, Suzuki Y.

Natl Med J India. 2013 Jan-Feb;26(1):29-30.

PMID:
24066991
20.

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL.

Clin Chim Acta. 1983 Jul 15;131(3):273-81.

PMID:
6883721
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