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"Thiamine Responsive Megaloblastic Anaemia"



Thiamine Responsive Megaloblastic Anaemia

Category: Clinical Genetics Diabetes Endocrinology Genomics Paediatrics

SLC19A2 GENE ANALYSIS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANAEMIA Thiamine responsive megaloblastic anaemia (TRMA), also known as Roger’s Syndrome is a rare autosomal recessive disorder characterised by early onset megaloblastic anaemia, diabetes mellitus and sensorineural deafness. Patients present with a non-autoimmune insulin deficient diabetes mellitus, sensorineural deafness and a variable anaemia in the first 5 years […]

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Thiamine Responsive Megaloblastic Anaemia

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17-hydroxyprogesterone 17-OH progesterone 17-OHP 17α-hydroxyprogesterone 21 hydroxylase 21-OH 24 hour 24 hour urine collection 24 hr 3-methoxytyramine 5-HIAA 5-Hydroxyindoleacetic acid 7-Dehydrocholesterol 7-DHC Aarskog-scott syndrome AAS ABCC6 ABCC8 Academic Department status acid maltase acyclovir ADAMTS13 admab AED AEDs AGPAT2 AGPS AIP Alagille Syndrome ALB Albumin ALP Alpha-galactosidase A deficiency amikacin amino acid Anderson-Fabry aneuploidy anomoly Anti-convulsant Anti-epileptic anti-thyroglobulin antithyroglobulin ARSE AstraZeneca) BANF1 Beckton Dickinson Beta-glucosidase Bilharzia Biotin Blood Sciences BNP Bone bone profile BRAF BSCL2 CA-153 CA125 CA15.3 CA153 CA19-9; CA199; CA-199 CADASIL CALCITONIN cancer carcinoid tumour Carney Complex CASR CAV1 CDC73 CFT CGL chance Chondrodysplasia punctata ciprofloxacin Clotted Blood co-trimoxazole COL4A1 COL4A2 colistin Congenital Generalised Lipodystrophy Congenital Hypothyroidism Coronavirus Covid CRP CT cycloserine daptomycin Deafness DG30 Diabetes diarrhoea discontinued DLL3 DMP1 Down's syndrome download EBP EBV Edward's syndrome EFTUD2 EGFR EIF2AK3 ENPP1 enterobius vermicularis epilepsy epileptic Epstein Barr ESR ESR tubes ETG ethambutol Fabry Faciogenital dysplasia faecal occult blood faeces FAI Familial Hepatic Adenomas Familial Isolated Hyperparathyroidism Familial Isolated Pituitary Adenoma Familial Medullary Thyroid Carcinoma Familial Partial Lipodystrophy Familial Porencephaly Fanconi-Bickel Syndrome FASP Feingold Syndrome fetal FGD1 FGF23 FIPA first trimester screening FIT FIT; qFIT; occult blood flu flucloxacillin flucytosine FOB foetal FOXP3 FPLD free light chains FSLC FTS fβ-hCG GACI GALNT3 ganciclovir Gaucher Disease GCK Generalised Arterial Calcification of Infancy gentamicin GFR Glandular fever Glucose Galactose Malabsorption GLUD1 glycine glycogen storage disease GNPAT GSDII H pylori HADH Haemochromatosis Hajdu-Cheney Syndrome hCG Helicobacter Herpes HES7 HFE HFTC HHRH HLA HLA-B27 HLAB27 HNF1A HNF1B HNF4A homovanillic acid HR HSV Hutchinson-Gilford Progeria syndrome HVA Hyperinsulinism hyperphosphataemic hyperphosphataemic familial tumoral calcinosis Hyperphosphatemic Familial Tumoral Calcinosis Hypophosphatemic rickets Hypophosphatemic rickets with hypercalciuria ICE immunoassay immunosuppressant Infectious mononucleosis influenza influenzae instructions interference IPEX Syndrome Irinotean therapy Irinotecan Toxicity isoniazid itraconazole IVIg JAG1 KCNJ11 KL KRAS Leucocyte (White Blood Cell) Enzymes levels LFNG LFT LFTs LGMD1B Limb girdle muscular dystrophy type 1B linezolid lipid lipids liver function tests LMNA lysosomal storage disease MAD MAD subtype A MAD subtype B MADA MADB Malignant Melanoma Mandibuloacral dysplasia Mandibulofacial dysostosis with microcephaly Maternally Inherited Diabetes and Deafness Maturity-Onset Diabetes of the Young MELAS Syndrome MEN1 MEN2A MEN2B MEN4 MESP2 Metastatic Colorectal Cancer MFDM mitochondrial mutation m.3243A>G MODY Molecular Genetics monospot MPO Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 1 multiple endocrine neoplasia type 2a multiple endocrine neoplasia type 2b Multiple Endocrine Neoplasia Type 4 MYCN mycobacteria nbt NDH Syndrome needle Needlestick Neonatal Diabetes Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus & Cerebellar Agenesis Neonatal Diabetes Mellitus & Congenital Hypothyroidism (NDH Syndrome) Nestor-Guillermo Progeria Syndrome netilmicin neuroblastoma Newsletter NGPS Non-Small Cell Lung Cancer normetanephrine NOTCH2 NOTCH2 exon 34 NOTCH3 NPEx NRAS NSCLC NTproBNP; 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