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Recommendations for patient screening in ultra-rare inherited metabolic diseases : what have we learned from Niemann-Pick disease type C?
Sobrido, Maria-Jesus
;
Bauer, Peter
;
De Koning, Tom
;
Klopstock, Thomas
;
Nadjar, Yann
;
Patterson, Marc C.
;
Synofzik, Matthis
;
Hendriksz, Christian J.
(
BioMed Central (BMC)
,
2019-01
)
Dr Spur’s mystery case primary immunodeficiency disorders
Swanepoel, Petri
;
Van Rooyen, Cathy
;
Van den Berg, Sylvia
;
Green, Robin J.
(
Allergy Society of South Africa
,
2019
)
Challenging beliefs : only a genetic diagnosis of primary immunodeficiency disorders will suffice for some patients, even in a resource-poor setting
Van den Berg, Sylvia
;
Van Rooyen, Cathy
;
De Villiers, Nico
;
Walters, Sarah
;
Van Bruwaene, L.
;
Van Niekerk, Andre
;
Green, Robin J.
(
Allergy Society of South Africa
,
2019-09
)
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Green, Robin J. (2)
Van den Berg, Sylvia (2)
Van Rooyen, Cathy (2)
Bauer, Peter (1)
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De Villiers, Nico (1)
Hendriksz, Christian J. (1)
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Common variable immune deficiency (1)
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Inborn errors of metabolism (IEMs) (1)
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Prenatal testing (1)
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2019 (3)
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