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"Glucose Galactose Malabsorption"



Glucose Galactose Malabsorption

Category: Clinical Genetics Genomics

SLC5A1 GENE ANALYSIS Glucose-Galactose Malabsorption is an autosomal recessive disorder which presents within the first weeks of life with severe watery and acidic diarrhoea and dehydration. The disorder can be fatal within a few weeks unless glucose and galactose are eliminated from the diet. Disease-causing variants in the SLC5A1 gene have been identified in 30/73 (41%) […]

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Glucose Galactose Malabsorption

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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; 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