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Results:
1-21
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Results: 21
Authors:
Takiguchi, K
Itoh, K
Shimmoto, M
Ozand, PT
Doi, H
Sakuraba, H
Citation: K. Takiguchi et al., Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis, J HUM GENET, 45(4), 2000, pp. 200-206
Authors:
Al-Essa, MA
Bakheet, SM
Patay, ZJ
Powe, JE
Ozand, PT
Citation: Ma. Al-essa et al., Clinical and cerebral FDG PET scan in a patient with Krabbe's disease, PED NEUROL, 22(1), 2000, pp. 44-47
Authors:
Al-Essa, MA
Bakheet, SM
Patay, ZJ
Powe, JE
Ozand, PT
Citation: Ma. Al-essa et al., Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease, BRAIN DEVEL, 22(2), 2000, pp. 127-131
Authors:
Al-Essa, MA
Sakati, NA
Bakheet, SM
Patay, ZJ
Dabbagh, O
Chaves-Carballo, E
Ozand, PT
Citation: Ma. Al-essa et al., X-linked adrenoleukodystrophy - The Saudi experience, SAUDI MED J, 21(1), 2000, pp. 61-71
Authors:
Ozand, PT
Citation: Pt. Ozand, Hypoglycemia in association with various organic and amino acid disorders, SEM PERINAT, 24(2), 2000, pp. 172-193
Authors:
Pomponio, RJ
Ozand, PT
Al Essa, M
Wolf, B
Citation: Rj. Pomponio et al., Novel mutations in children with profound biotinidase deficiency from Saudi Arabia, J INH MET D, 23(2), 2000, pp. 185-187
Authors:
Al-Essa, MA
Chaves-Carballo, E
Ozand, PT
Citation: Ma. Al-essa et al., Hyperpipecolic acidemia: Clinical, biochemical, and radiologic observations, PED NEUROL, 21(5), 1999, pp. 826-829
Authors:
Al-Essa, MA
Bakheet, SM
Patay, ZJ
Nounou, RM
Ozand, PT
Citation: Ma. Al-essa et al., Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis, BRAIN DEVEL, 21(8), 1999, pp. 559-562
Authors:
Al-Essa, M
Bakheet, S
Patay, Z
Al-Shamsan, L
Al-Sonbul, A
Al-Watban, J
Powe, J
Ozand, PT
Citation: M. Al-essa et al., (18)Fluoro-2-deoxyglucose ((18)FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations, BRAIN DEVEL, 21(5), 1999, pp. 312-317
Authors:
Al-Essa, MA
Al Amir, A
Rashed, M
Al Jishi, E
Abutaleb, A
Mobaireek, K
Shin, YS
Ozand, PT
Citation: Ma. Al-essa et al., Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency, BRAIN DEVEL, 21(5), 1999, pp. 345-349
Authors:
Al-Essa, M
Bakheet, S
Al-Shamsan, L
Patay, Z
Powe, J
Ozand, PT
Citation: M. Al-essa et al., (18)Fluoro-2-deoxyglucose ((18)FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations, BRAIN DEVEL, 21(1), 1999, pp. 24-29
Authors:
Al-Essa, M
Al-Hussein, K
Ozand, PT
Citation: M. Al-essa et al., 2-[fluorine-18] fluoro-2-deoxy-D-glucose PET scan of the brain in maple syrup urine disease, CLIN NUCL M, 24(8), 1999, pp. 612-613
Authors:
Bakheet, S
Al-Essa, M
Patay, Z
Al-Watban, J
Dhaunsi, G
Powe, J
Ozand, PT
Citation: S. Bakheet et al., Cerebral fluorine-18 fluorodeoxyglucose positron emission tomographic findings in X-linked adrenoleukodystrophy, CLIN NUCL M, 24(5), 1999, pp. 364-365
Authors:
Al-Essa, M
Dabbagh, O
Ozand, PT
Citation: M. Al-essa et al., Anticipation in a family with autosomal dominant spinocerebellar ataxia, ANN SAUDI M, 19(5), 1999, pp. 434-437
Authors:
Rashed, MS
Rahbeeni, Z
Ozand, PT
Citation: Ms. Rashed et al., Application of electrospray tandem mass spectrometry to neonatal screening, SEM PERINAT, 23(2), 1999, pp. 183-193
Authors:
Al-Essa, MA
Bakheet, SM
Patay, ZJ
Powe, JE
Ozand, PT
Citation: Ma. Al-essa et al., Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease, J INH MET D, 22(7), 1999, pp. 846-848
Authors:
Al-Essa, M
Ozand, PT
Citation: M. Al-essa et Pt. Ozand, Pyloric stenosis in a boy with non-ketotic hyperglycinaemia, J INH MET D, 22(1), 1999, pp. 81-82
Authors:
Al-Essa, M
Dhaunsi, GS
Rashed, M
Ozand, PT
Rahbeeni, Z
Citation: M. Al-essa et al., Zellweger syndrome in Saudi Arabia and its distinct features, CLIN PEDIAT, 38(2), 1999, pp. 77-86
Authors:
Al-Jishi, E
Meyer, BF
Rashed, MS
Al-Essa, M
Al-Hamed, MH
Sakati, N
Sanjad, S
Ozand, PT
Kambouris, M
Citation: E. Al-jishi et al., Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency, CLIN GENET, 55(6), 1999, pp. 444-449
Authors:
Al-Essa, M
Al-Shamsan, L
Rashed, MS
Ozand, PT
Citation: M. Al-essa et al., Alkaptonuria: Case report and review of the literature, ANN SAUDI M, 18(5), 1998, pp. 442-444
Authors:
Al-Essa, M
Rashed, M
Ozand, PT
Citation: M. Al-essa et al., Tyrosinemia type II: Report of the first four cases in Saudi Arabia, ANN SAUDI M, 18(5), 1998, pp. 466-468
Risultati:
1-21
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