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Novel mutation in GLRB in a large family with hereditary hyperekplexia

Clinical genetics, 2012-05, Vol.81 (5), p.479-484

2012

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Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

Clinical chemistry (Baltimore, Md.), 1997-07, Vol.43 (7), p.1129-1141

1997

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Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

Pediatric research, 1995-09, Vol.38 (3), p.324-331

1995

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CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients

American journal of neuroradiology : AJNR, 1995-04, Vol.16 (4), p.675-683

1995

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Biotin-responsive basal ganglia disease : a novel entity

Brain (London, England : 1878), 1998-07, Vol.121 (7), p.1267-1279

1998

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CT and MR of the brain in disorders of the propionate and methylmalonate metabolism

American journal of neuroradiology : AJNR, 1994-09, Vol.15 (8), p.1459-1473

1994

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Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

American journal of human genetics, 2005-07, Vol.77 (1), p.16-26

2005

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Application of electrospray tandem mass spectrometry to neonatal screening

Seminars in perinatology, 1999-04, Vol.23 (2), p.183-193

1999

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Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

Clinical chemistry (Baltimore, Md.), 1995-08, Vol.41 (8 Pt 1), p.1109-1114

1995

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CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patients

Brain & development (Tokyo. 1979), 1994-11, Vol.16, p.104-124

1994

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Early neurosurgical intervention in spondyloepiphyseal dysplasias

Child's nervous system, 2006-03, Vol.22 (3), p.249-252

2006

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Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

Journal of inherited metabolic disease, 2000-03, Vol.23 (2), p.185-187

2000

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Hypoglycemia in association with various organic and amino acid disorders

Seminars in perinatology, 2000-04, Vol.24 (2), p.172-193

Ozand, Pinar T.

2000

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Unusual presentations of propionic acidemia

Brain & development (Tokyo. 1979), 1994-11, Vol.16, p.46-57

1994

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Implantable central venous access devices in children with metabolic disease

Metabolism, clinical and experimental, 1998-08, Vol.47 (8), p.900-902

1998

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Movement disorders in childhood organic acidurias Clinical, neuroimaging, and biochemical correlations

Brain & development (Tokyo. 1979), 1994-11, Vol.16, p.94-103

1994

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HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

American journal of human genetics, 1998-02, Vol.62 (2), p.295-300

1998

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

Clinical genetics, 1999-06, Vol.55 (6), p.444-449

1999

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Electrospray tandem mass spectrometry in the diagnosis of organic acidemias

Rapid communications in mass spectrometry, 1994-01, Vol.8 (1), p.129-133

1994

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Infectious complications of propionic acidemia in Saudia Arabia

Clinical genetics, 1998-07, Vol.54 (1), p.90-95

1998

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Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency

Brain & development (Tokyo. 1979), 1999-07, Vol.21 (5), p.345-349

1999

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Experience of King Faisal Specialist Hospital and Research Center with saudi organic acid disorders

Brain & development (Tokyo. 1979), 1994-11, Vol.16, p.1-6

1994

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3‐Hydroxy‐3‐methylglutaryl‐CoA lyase deficiency in a boy with VATER association

Journal of inherited metabolic disease, 1998-06, Vol.21 (4), p.443-444

1998

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Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

Brain & development (Tokyo. 1979), 1994-11, Vol.16, p.12-22

1994

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

Clinical nuclear medicine, 1999-08, Vol.24 (8), p.612-613

1999

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Novel mutation in GLRB in a large family with hereditary hyperekplexia

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients

Biotin-responsive basal ganglia disease : a novel entity

CT and MR of the brain in disorders of the propionate and methylmalonate metabolism

Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Application of electrospray tandem mass spectrometry to neonatal screening

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patients

Early neurosurgical intervention in spondyloepiphyseal dysplasias

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

Hypoglycemia in association with various organic and amino acid disorders

Unusual presentations of propionic acidemia

Implantable central venous access devices in children with metabolic disease

Movement disorders in childhood organic acidurias Clinical, neuroimaging, and biochemical correlations

HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

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

Electrospray tandem mass spectrometry in the diagnosis of organic acidemias

Infectious complications of propionic acidemia in Saudia Arabia

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency

Experience of King Faisal Specialist Hospital and Research Center with saudi organic acid disorders

3‐Hydroxy‐3‐methylglutaryl‐CoA lyase deficiency in a boy with VATER association

Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

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

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