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Items: 1 to 50 of 154

1.

Clinical and biochemical features associated with BCS1L mutation.

Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N.

J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19.

PMID:
22991165
2.

A novel X-linked disorder with developmental delay and autistic features.

Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.

Ann Neurol. 2012 Apr;71(4):498-508. doi: 10.1002/ana.22673. Epub 2011 Dec 28.

PMID:
22213401
3.

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

Kaya N, Al-Owain M, Abudheim N, Al-Zahrani J, Colak D, Al-Sayed M, Milanlioglu A, Ozand PT, Alkuraya FS.

Am J Med Genet A. 2011 Jun;155A(6):1281-4. doi: 10.1002/ajmg.a.33932. Epub 2011 May 12.

PMID:
21567908
4.

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects.

Al-Zahrani J, Al-Dosari N, Abudheim N, Alshidi TA, Colak D, Al-Habit O, Al-Odaib A, Sakati N, Meyer B, Ozand PT, Kaya N.

Mol Cytogenet. 2011 Apr 2;4:9. doi: 10.1186/1755-8166-4-9.

5.

Novel mutation in GLRB in a large family with hereditary hyperekplexia.

Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N.

Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7.

PMID:
21391991
6.

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old.

Colak D, Chishti MA, Al-Bakheet AB, Al-Qahtani A, Shoukri MM, Goyns MH, Ozand PT, Quackenbush J, Park BH, Kaya N.

Mol Cancer. 2010 Jun 12;9:146. doi: 10.1186/1476-4598-9-146.

7.

Hormonal levels of leptin, insulin, ghrelin, and neuropeptide Y in lean, overweight, and obese Saudi females.

Daghestani MH, Ozand PT, Al-Himadi AR, Al-Odaib AN.

Saudi Med J. 2007 Aug;28(8):1191-7.

PMID:
17676200
8.

Tyrosinemia type II: Report of the first four cases in Saudi Arabia.

Al-Essa M, Rashed M, Ozand PT.

Ann Saudi Med. 1998;18(5):466-8. No abstract available.

9.

Alkaptonuria: Case report and review of the literature.

Al Essa M, Al-Shamsan L, Rashed MS, Ozand PT.

Ann Saudi Med. 1998;18(5):442-4. No abstract available.

10.

Diagnosis of inborn errors of metabolism by tandem mass spectrometry.

Ozand PT.

Ann Saudi Med. 1998 May-Jun;18(3):234-8. No abstract available.

11.

Saudi experience with classic homocystinuria.

Al-Essa M, Rashed M, Ozand PT.

Ann Saudi Med. 1998 May-Jun;18(3):230-3.

12.

Glutaric acidemia type 1: First Saudi patient diagnosed by tandem mass spectrometry-based neonatal screening.

Soufi S, Rashed MS, Al Essa M, Bucknall MP, Refi A, Badaghesh F, Habib HS, Ozand PT.

Ann Saudi Med. 1998 Mar-Apr;18(2):160-3. No abstract available.

13.

Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience.

Al Essa M, Nounou R, Sakati N, Le Quesne G, Joshi S, Archibald A, Ozand PT.

Ann Saudi Med. 1998 Mar-Apr;18(2):120-4.

14.

Awareness of inborn errors of metabolism among parents in Saudi Arabia.

Al Essa M, Ozand PT, Al-Gain SI.

Ann Saudi Med. 1997 Sep;17(5):562-4. No abstract available.

15.

Anticipation in a family with autosomal dominant spinocerebellar ataxia.

Al-Essa M, Dabbagh O, Ozand PT.

Ann Saudi Med. 1999 Sep-Oct;19(5):434-7. No abstract available.

16.
17.

Ophthalmic manifestations of Sanjad-Sakati syndrome.

Al Dhoyan N, Al Hemidan AI, Ozand PT.

Ophthalmic Genet. 2006 Sep;27(3):83-7.

PMID:
17050283
18.

3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.

Al-Odaib A, Rashed M, Page T, Nyhan W, Ozand PT.

Saudi Med J. 2006 May;27(5):732-3. No abstract available.

PMID:
16680273
19.

Early neurosurgical intervention in spondyloepiphyseal dysplasias.

Al-Shail E, Al-Odaib A, Ozand PT.

Childs Nerv Syst. 2006 Mar;22(3):249-52. Epub 2005 Aug 20.

PMID:
16133273
20.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF.

Am J Hum Genet. 2005 Jul;77(1):16-26. Epub 2005 May 3.

21.

Recently available techniques applicable to genetic problems in the Middle East.

Ozand PT, Odaib AA, Sakati N, Al-Hellani AM.

Community Genet. 2005;8(1):44-7. Review.

PMID:
15767755
22.

Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy.

Bosley TM, Abu-Amero KK, Ozand PT.

Neurology. 2004 Oct 12;63(7):1305-8.

PMID:
15477560
23.

Carnitine prevents cyclic GMP-induced inhibition of peroxisomal enzyme activities.

Dhaunsi GS, Al-Essa M, Ozand PT, Moosa A.

Cell Biochem Funct. 2004 Nov-Dec;22(6):365-71.

PMID:
15386443
24.

Nitric oxide promotes mitogen-induced dna synthesis in human dermal fibroblasts through cGMP.

Dhaunsi GS, Ozand PT.

Clin Exp Pharmacol Physiol. 2004 Jan-Feb;31(1-2):46-9.

PMID:
14756683
25.

A new era for preventive genetic programs in the Arabian Peninsula.

Al-Odaib AN, Abu-Amero KK, Ozand PT, Al-Hellani AM.

Saudi Med J. 2003 Nov;24(11):1168-75. Review.

PMID:
14647548
26.

A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.

Bhuiyan J, Al Odaib AN, Ozand PT.

Clin Chim Acta. 2003 Sep;335(1-2):21-6.

PMID:
12927680
27.

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.

28.

Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.

al-Essa MA, Rashed MS, Ozand PT.

East Mediterr Health J. 1999 Nov;5(6):1204-7.

29.
30.

X-linked adrenoleukodystrophy. The Saudi experience.

Al-Essa MA, Sakati NA, Bakheet SM, Patay ZJ, Dabbagh O, Chaves-Carbello E, Ozand PT.

Saudi Med J. 2000 Jan;21(1):61-71.

PMID:
11533753
31.

Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.

Rashed MS, Rahbeeni Z, Ozand PT.

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:170-3.

PMID:
11400762
32.

An atlas of common metabolic and genetic diseases

Al-Essa MA, Sakati NA, Ozand PT.

Ann Biol Clin (Paris). 2000 Nov;58(6):767. French. No abstract available.

33.

Atlas of common lysosomal and peroxisomal disorders - manual of metabolic diseases

Al-Essa MA, Ozand PT.

Ann Biol Clin (Paris). 2000 Nov;58(6):767-8. French. No abstract available.

34.

Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

Takiguchi K, Itoh K, Shimmoto M, Ozand PT, Doi H, Sakuraba H.

J Hum Genet. 2000;45(4):200-6.

PMID:
10944848
35.

Hypoglycemia in association with various organic and amino acid disorders.

Ozand PT.

Semin Perinatol. 2000 Apr;24(2):172-93. Review.

PMID:
10805172
36.

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

Pomponio RJ, Ozand PT, Al Essa M, Wolf B.

J Inherit Metab Dis. 2000 Mar;23(2):185-7. No abstract available.

PMID:
10801060
37.

Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease.

al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT.

J Perinatol. 2000 Mar;20(2):120-8.

PMID:
10785889
39.

Clinical and cerebral FDG PET scan in a patient with Krabbe's disease.

Al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT.

Pediatr Neurol. 2000 Jan;22(1):44-7.

PMID:
10669205
40.

X-linked adrenoleukodystrophy. The Saudi experience.

Al-Essa MA, Sakati NA, Bakheet SM, Patay ZJ, Dabbagh O, Chaves-Carballo E, Ozand PT.

Neurosciences (Riyadh). 2000 Jan;5(1):35-45.

PMID:
24276660
41.
42.

Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.

Al-Essa MA, Chaves-Carballo E, Ozand PT.

Pediatr Neurol. 1999 Nov;21(5):826-9.

PMID:
10593675
43.

Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease.

al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT.

J Inherit Metab Dis. 1999 Oct;22(7):846-8. No abstract available.

PMID:
10518290
44.
45.

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.

Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M.

Clin Genet. 1999 Jun;55(6):444-9.

PMID:
10450861
46.

2-[fluorine-18] fluoro-2-deoxy-D-glucose PET scan of the brain in maple syrup urine disease.

al-Essa M, al-Hussein K, Ozand PT.

Clin Nucl Med. 1999 Aug;24(8):612-3. No abstract available.

PMID:
10439189
47.
48.

18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations.

Al-Essa M, Bakheet S, Patay Z, Al-Shamsan L, Al-Sonbul A, Al-Watban J, Powe J, Ozand PT.

Brain Dev. 1999 Jul;21(5):312-7.

PMID:
10413018
49.

Application of electrospray tandem mass spectrometry to neonatal screening.

Rashed MS, Rahbeeni Z, Ozand PT.

Semin Perinatol. 1999 Apr;23(2):183-93. Review.

PMID:
10331469
50.

Cerebral fluorine-18 fluorodeoxyglucose positron emission tomographic findings in x-linked adrenoleukodystrophy.

Bakheet S, Al-Essa M, Patay Z, Al-Watban J, Dhaunsi G, Powe J, Ozand PT.

Clin Nucl Med. 1999 May;24(5):364-5. No abstract available.

PMID:
10232485

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