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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,... 
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
British Medical Journal, ISSN 0959-8138, 01/2011, Volume 342, pp. d405 - d405
Journal Article
BMJ, ISSN 0959-8138, 2009, Volume 339, Issue 7737, pp. 65 - 65
Journal Article
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
Journal Article
Journal Article
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. 
Journal Article
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
Journal Article
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
Journal Article
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... 
Journal Article
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