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1. Full Text Inherited metabolic disorders and dyslipidaemia
by Sulaiman, Raashda A
Journal of Clinical Pathology, ISSN 0021-9746, 11/2019, p. jclinpath-2019-205910
Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life,... 
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2. Full Text Inherited Metabolic Disorders in Adults: A view from Saudi Arabia
by Sulaiman, Raashda A and Al-Owain, Mohammed
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103562
The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these... 
Saudi Arabia | Inherited metabolic disorders | Adults | PROGRAM | MUTATION | GENETICS & HEREDITY
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3. Full Text Pasireotide and octreotide in the treatment of severe late dumping syndrome
by Mohammadi, Alireza and Sulaiman, Raashda A and Grossman, Ashley B
Clinical Case Reports, ISSN 2050-0904, 10/2017, Volume 5, Issue 10, pp. 1608 - 1611
Key Clinical Message Hypoglycemia due to late dumping is a significant problem postoesophagectomy but may not always be diagnosed sufficiently early. It can be... 
octreotide | hypoglycaemia | Dumping | oesophagectomy | pasireotide
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4. Full Text Depression in adult patients with biotin responsive basal ganglia disease
by Bubshait, Dalal K and Rashid, Asif and Al-Owain, Mohammed A and Sulaiman, Raashda A
Drug Discoveries & Therapeutics, ISSN 1881-7831, 2016
Biotin responsive basal ganglia disease (BBGD), is a potentially treatable inherited metabolic disorder which clinically presents as sub-acute encephalopathy... 
Basal ganglia disease | biotin | thiamine | depression
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5. Full Text Paraprotein interferences in routine laboratory assays
by Sulaiman, Raashda and Othonos, Nanthia and Gama, Rousseau
Pathology, ISSN 0031-3025, 01/2011, Volume 43, Issue 1, pp. 86 - 86
PATHOLOGY | Blood Chemical Analysis - methods | Artifacts | Diagnostic Errors - prevention & control | Paraproteins - metabolism | Paraproteinemias - diagnosis | Humans | Paraproteinemias - blood | Serum Albumin - analysis
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6. An unusual complication in a patient with graves' disease
by Khalid, Yasmeen and Sulaiman, Raashda and Zahir, Rasheed and Baskar, Varadarajan and Buch, Harit N
New Zealand Medical Journal, ISSN 0028-8446, 2011, Volume 124, Issue 1341, pp. 69 - 71
MEDICINE, GENERAL & INTERNAL | Graves Disease - diagnosis | Humans | Pleural Effusion - diagnostic imaging | Graves Disease - drug therapy | Pleural Effusion - drug therapy | Treatment Outcome | Radiography | Propranolol - administration & dosage | Pericardial Effusion - diagnostic imaging | Female | Graves Disease - complications | Pericardial Effusion - etiology | Aged | Pleural Effusion - etiology | Adrenergic beta-Antagonists - administration & dosage | Pericardial Effusion - drug therapy
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7. Full Text Shortness of breath: flushing out the diagnosis
by Sulaiman, Raashda and Panting, Mark and Bhogal, Gurpal and Perry, Ian and Ford, Clare and Gama, Rousseau
Annals of Clinical Biochemistry, ISSN 0004-5632, 3/2010, Volume 47, Issue 2, pp. 177 - 178
We report a 63-year-old man who presented with breathlessness and weight loss and was diagnosed on echocardiography to have carcinoid heart disease. It was... 
CHROMOGRANIN-A | NEUROENDOCRINE TUMORS | MEDICAL LABORATORY TECHNOLOGY | CARCINOID HEART-DISEASE | Ileal Neoplasms - diagnosis | Respiratory System Abnormalities - physiopathology | Echocardiography | Carcinoid Heart Disease - diagnostic imaging | Humans | Middle Aged | Male | Carcinoid Heart Disease - diagnosis
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8. Weight loss and hyponatraemia
by Othonos, Nantia and Sulaiman, Raashda and D'Costa, Domnick and Gama, Rousseau
British Medical Journal, ISSN 0959-8138, 01/2011, Volume 342, pp. d405 - d405
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9. Full Text First define impaired fasting glycaemia
by Sulaiman, Raashda and Labib, Mourad
BMJ, ISSN 0959-8138, 2009, Volume 339, Issue 7737, pp. 65 - 65
Glucose tolerance | DIAGNOSIS OF DIABETES | Diabetes mellitus | Prediabetic state
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10. Full Text Diagnosis of diabetes. First define impaired fasting glycaemia
by Sulaiman, Raashda and Labib, Mourad
BMJ (Clinical research ed.), ISSN 1756-1833, 2009, Volume 339, p. b5642
MEDICINE, GENERAL & INTERNAL | Glucose Intolerance - diagnosis | Fasting - blood | Humans | Sensitivity and Specificity | Diabetes Mellitus - diagnosis | Glucose Tolerance Test - standards | Obesity - blood
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11. Full Text The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | CHARGE | GENETICS & HEREDITY | KABUKI SYNDROMES | Reproducibility of Results | Genetic Testing | Humans | Molecular Sequence Annotation | Male | Genetic Diseases, Inborn - epidemiology | Sequence Analysis, DNA | Morbidity | Exome | Homozygote | Phenotype | Female | Consanguinity | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genetic Diseases, Inborn - diagnosis | Saudi Arabia - epidemiology | Medical colleges | Neural cell adhesion molecule | DSCAM protein | Dementia disorders | Population studies | Heredity | Dishevelled protein | Siblings | Original Investigation
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12. Full Text Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: Implications in variant interpretation
by Monies, Dorota and Maddirevula, Sateesh and Kurdi, Wesam and Alanazy, Mohammed H and Alkhalidi, Hisham and Al-Owain, Mohammed and Sulaiman, Raashda A and Faqeih, Eissa and Goljan, Ewa and Ibrahim, Niema and Abdulwahab, Firdous and Hashem, Mais and Abouelhoda, Mohamed and Shaheen, Ranad and Arold, Stefan T and Alkuraya, Fowzan S
Genetics in Medicine, ISSN 1098-3600, 10/2017, Volume 19, Issue 10, pp. 1144 - 1150
Purpose: The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only... 
autozygome | molecular mechanism | loss of function | gain of function | dominant negative | PROTEIN | GUIDELINES | AMERICAN-COLLEGE | STANDARDS | MEDICAL GENETICS | DELETION | FBN2 MUTATIONS | PDE11A | HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY | GENETICS & HEREDITY | BRAIN | Gene Frequency - genetics | Genetic Predisposition to Disease - genetics | Genes, Recessive - genetics | Humans | Risk Factors | Male | Chromosome Mapping | Mutation - genetics | Genetic Testing - methods | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Genetic Variation - physiology | Exome | Saudi Arabia | Pedigree | Base Sequence | Alleles | Polymorphism, Single Nucleotide - genetics | Female | Consanguinity | Genetic Variation - genetics | Child | Genes, Dominant - genetics | Mutation
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13. Full Text CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
by Monies, Dorota and Maddirevula, Sateesh and Kurdi, Wesam and Alanazy, Mohammed H and Alkhalidi, Hisham and Al-Owain, Mohammed and Sulaiman, Raashda A and Faqeih, Eissa and Goljan, Ewa and Ibrahim, Niema and Abdulwahab, Firdous and Hashem, Mais and Abouelhoda, Mohamed and Shaheen, Ranad and Arold, Stefan T and Alkuraya, Fowzan S
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2018, Volume 20, Issue 3, p. 380
This corrects the article DOI: 10.1038/gim.2017.22. 
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14. Full Text Erratum: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
by Monies, Dorota and Maddirevula, Sateesh and Kurdi, Wesam and Alanazy, Mohammed H and Alkhalidi, Hisham and Al-Owain, Mohammed and Sulaiman, Raashda A and Faqeih, Eissa and Goljan, Ewa and Ibrahim, Niema and Abdulwahab, Firdous and Hashem, Mais and Abouelhoda, Mohamed and Shaheen, Ranad and Arold, Stefan T and Alkuraya, Fowzan S
Genetics in Medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 380 - 380
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15. Full Text Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia
by Bakshi, Nasir A and Al‐Anzi, Talal and Mohamed, Said Y and Rahbeeni, Zuhair and AlSayed, Moeen and Al‐Owain, Mohammed and Sulaiman, Raashda A
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 687 - 691
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia,... 
hemophagocytosis | methylmalonic acidemia | myelodysplasia | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | GENETICS & HEREDITY | Methylmalonyl-CoA Mutase - genetics | Humans | Genotype | Male | Amino Acid Metabolism, Inborn Errors - blood | Bone Marrow Examination | Amino Acid Metabolism, Inborn Errors - diagnosis | Phenotype | Amino Acid Metabolism, Inborn Errors - genetics | Bone Marrow - pathology | Adolescent | Alleles | Biomarkers | Female | Mutation | Pancytopenia - blood | Hypoplasia | Thrombocytopenia | Pathology | Leukopenia | Hematology | Sideroblasts | Pancytopenia | Bone marrow | Myelodysplasia
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16. Full Text Effect of order of draw of blood samples during phlebotomy on routine biochemistry results
by Sulaiman, Raashda A and Cornes, Michael P and Whitehead, Simon J and Othonos, Nadia and Ford, Clare and Gama, Rousseau
Journal of Clinical Pathology, ISSN 0021-9746, 11/2011, Volume 64, Issue 11, pp. 1019 - 1020
AimTo investigate whether incorrect order of draw of blood samples during phlebotomy causes in vitro potassium ethylenediaminetetraacetic acid EDTA (kEDTA)... 
TUBES | CONTAMINATION | SPECIMENS | HYPOCALCEMIA | PATHOLOGY | SPURIOUS HYPERKALEMIA | Humans | Middle Aged | Phlebotomy - standards | Phlebotomy - methods | Posture | Young Adult | Calcium - blood | Adolescent | Adult | Potassium - blood | Zinc - blood | Edetic Acid - blood | Magnesium - blood | Alkaline Phosphatase - blood | Iron - blood | Veins | Phlebotomy | Research | Puncture | Blood | Contamination | Methods | Testing
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17. Full Text Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene
by Ramzan, Khushnooda and Imtiaz, Faiqa and Al-Ashgar, Hamad I and AlSayed, Moeenaldeen and Sulaiman, Raashda A
European Journal of Medical Genetics, ISSN 1769-7212, 2017, Volume 60, Issue 6, pp. 308 - 311
Abstract Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. It... 
Medical Education | Hepatocellular carcinoma | Juvenile hemochromatosis | Cardiomyopathy | HJV/HFE2 mutation | Hypogonadism | POPULATION | HFE C282Y | IRON-OVERLOAD | GENETICS & HEREDITY | NATURAL-HISTORY | Liver Neoplasms - genetics | Carcinoma, Hepatocellular - diagnosis | Exons | Hemochromatosis - ethnology | Humans | Arabs | Liver Neoplasms - complications | Male | Mutation, Missense | Homozygote | Hemochromatosis - complications | Liver Neoplasms - diagnosis | Carcinoma, Hepatocellular - complications | Hemochromatosis - congenital | Hemochromatosis Protein - genetics | Carcinoma, Hepatocellular - genetics | Adult | Hemochromatosis - diagnosis | Hemochromatosis - genetics | Medical colleges | Hemochromatosis | Liver diseases | Analysis | Liver | Genes | Genetic research | Genetic aspects | Hepatoma | Cancer
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18. Full Text Optic neuropathy in classical methylmalonic acidemia
by AlOwain, Mohammed and Khalifa, Ola Ali and Al Sahlawi, Zahra and Hussein, Maged H and Sulaiman, Raashda A and Al-Sayed, Moeen and Rahbeeni, Zuhair and Al-Hassnan, Zuhair and Al-Zaidan, Hamad and Nezzar, Hachemi and Al Homoud, Iftetah and Eldali, Abdelmoneim and Altonen, Brian and Handoom, Bedour S and Mbekeani, Joyce N
Ophthalmic Genetics, ISSN 1381-6810, 07/2019, Volume 40, Issue 4, pp. 313 - 322
Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of... 
Methylmalonic acidemia | optic neuropathy | methylmalonyl-CoA | metabolic acidosis | vision loss | metabolic disorder
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19. Full Text Depression in adult patients with biotin responsive basal ganglia disease
by Bubshait, Dalal K and Rashid, Asif and Al-Owain, Mohammed A and Sulaiman, Raashda A
Drug Discoveries & Therapeutics, ISSN 1881-7831, 2016, Volume 10, Issue 4, pp. 223 - 225
Biotin responsive basal ganglia disease (BBGD), is a potentially treatable inherited metabolic disorder which clinically presents as sub-acute encephalopathy... 
thiamine | Basal ganglia disease | depression | biotin | Vitamin B Complex - therapeutic use | Humans | Putamen - diagnostic imaging | Thiamine - therapeutic use | Male | Basal Ganglia Diseases - drug therapy | Biotin - therapeutic use | Necrosis | Antidepressive Agents - therapeutic use | Depressive Disorder, Major - psychology | Magnetic Resonance Imaging | Caudate Nucleus - diagnostic imaging | Basal Ganglia Diseases - psychology | Adult | Female | Basal Ganglia Diseases - diagnostic imaging | Depressive Disorder, Major - drug therapy | Siblings
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20. Full Text Optic neuropathy in classical methylmalonic acidemia
by AlOwain, Mohammed and Khalifa, Ola Ali and Al Sahlawi, Zahra and Hussein, Maged H and Sulaiman, Raashda A and Al-Sayed, Moeen and Rahbeeni, Zuhair and Al-Hassnan, Zuhair and Al-Zaidan, Hamad and Nezzar, Hachemi and Al Homoud, Iftetah and Eldali, Abdelmoneim and Altonen, Brian and Handoom, Bedour S and Mbekeani, Joyce N
Ophthalmic genetics, 07/2019, p. 1
: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic... 
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