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The Potchefstroom Laboratory for Inborn errors of Metabolism

The Laboratory for Inborn Errors of Metabolism - PLIEM, NWU, Potchefstroom is the only diagnostic laboratory of its kind in South Africa where screening for metabolic diseases are performed.

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The Potchefstroom Laboratory for Inborn errors of Metabolism | pliem.co.za Reviews
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The Laboratory for Inborn Errors of Metabolism - PLIEM, NWU, Potchefstroom is the only diagnostic laboratory of its kind in South Africa where screening for metabolic diseases are performed.
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1 Potchefstroom
2 Laboratory
3 Inborn Errors of Metabolism
4 Metabolism
5 Metabolic defects
6 Inherrited Errors of Metabolism
7 Inherrited Metabolic Defects
8 IEM
9 IMD
10 Medical Laboratory
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about us,research,metabolic defects,new developments,patient's stories,pliem,test information,sample handling,test request form,useful links,who we are,back to top
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The Potchefstroom Laboratory for Inborn errors of Metabolism | pliem.co.za Reviews

https://pliem.co.za

The Laboratory for Inborn Errors of Metabolism - PLIEM, NWU, Potchefstroom is the only diagnostic laboratory of its kind in South Africa where screening for metabolic diseases are performed.

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1

PLIEM - Patient's stories

http://pliem.co.za/patient-stories.html

Patient- and family stories. Ons het geleer bid, ons het geleer wat geduld is, en ons het geleer wat dit is om jou kind te waardeer. Die grootste gawe wat jy van die Here kan ontvang. Watter mamma is nie opgewonde oor haar eerste swangerskap nie en pappa loop breebors rond. 10 Vingers en 10 tone sê die Narkotiseur met haar geboorte. Daniël is gebore met 'n dodelike, skaars metaboliese afwyking, isovaleriaansuururie (IVA), en is die eerste Suid-Afrikaner by wie die afwyking gediagnoseer. Being able to fal...

2

PLIEM - Metabolic defects

http://pliem.co.za/metabolic-defects.html

MOST PREVALENT INBORN ERRORS OF METABOLISM IN SOUTH AFRICA. Click on the links below for more information. For additional reading, visit OMIM. 2-OH-Glutaric aciduria (L / D form). Biotinidase / Multiple carboxylase deficiency. Carbohydrate deficient glycoprotein (CDG). Carnitine palmitoyl transferase I. Carnitine palmitoyl transferase II. Fanconi Bickel Syndrome (GLUT2). Figlu Uria (Formimino glutamic aciduria). Glutaric aciduria type II (Multiple acyl-CoA dehydrogenase deficiency). FIGLU URIA (FORMIMINO...

3

PLIEM - Test request form

http://pliem.co.za/test-request.php

Download (PDF, 107K). Fields marked with *. Age at onset of symptoms. Please mark applicable information, in order to assist with the analyses and interpretation of the results. Abnormal ears (e.g. red). Aneurysms (bleeding in brain). Dark circles under the eyes. Flushed cheeks / face. Lack of eye contact. Migraine / Headache (severe). PDD (pervasive developmental delay). Photophobia (sensitivity to light). White blotches on face. Loss of meaningful hand use. Motor-vocal tics (Tourette's syndrome). Was t...

4

PLIEM - Sample handling

http://pliem.co.za/sample-handling.html

Download (PDF, 136K). Must please be FROZEN. Overnight and sent on dry ice in a cooler box. Must be added to the urine sample. For CYSTINE and HOMOCYSTINE analysis we need a 24 hour sample (volume must please be provided to calculate the excretion per day). Only 15 ml of the total 24 hour urine volume must be measured, frozen overnight and sent on dry ice for the CYS and HCYS analyses. SERUM SAMPLES - Yellow top tube. The blood sample must please be spun down. To another tube, frozen overnight. CARBOHYDR...

5

PLIEM - Test information

http://pliem.co.za/test-info-2015.html

Test information - 2015. Test information listed below are valid from 1 January 2015 - 31 December 2015. To view the 2016 test information, please click here. Our methods are based on the creatinine values of urine samples received. Therefore the U-CREATININE [4221] and URIC ACID [4321] analyses are done standard on ALL URINE SAMPLES received. Full Metabolic Evaluation - Urine. Full Metabolic Evaluation - Urine and Serum. Orotic Acid Screening - Urine. Mucopolysaccharide DMB Screening - Urine. CDG Identi...

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LINKS TO THIS WEBSITE

innatehealth.co.za innatehealth.co.za

Resources « Nutritionist Cape Town | Nutritional Therapist Cape TownNutritionist Cape Town | Nutritional Therapist Cape Town

http://www.innatehealth.co.za/health-resources

South African Association for Nutritional Therapy. What Doctors Don’t Tell You. Http:/ www.wddty.com/. Amino Acid and Micro-Nutrient Research Institute. Http:/ www.aamri.co.za/. Http:/ www.synexagroup.com/. Potchefstroom Lab for Inborn Errors in Metabolism. Http:/ www.pliem.co.za/. South African Journal of Natural Medicine. Suppliers of healthy food. Http:/ www.chimachine.co.za/. South African Dr Clark Practitioner, products and courses. Welcome to Innate Health. Subscribe to our newsletter.

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The Potchefstroom Laboratory for Inborn errors of Metabolism

The Potchefstroom Laboratory for Inborn Errors of Metabolism. Welcome to our site! The Laboratory for Inborn Errors of Metabolism (PLIEM) is situated in the Centre for Human Metabonomics (CHM) at the Potchefstroom Campus of the North-West University. The Scientists at the CHM are well known for their expertise and many years of experience in the field of inborn errors of metabolism (IEM) and have provided a diagnostic service to both the public and private health sector since 1983. Read more.

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