Results 91 to 100 of about 62,038 (258)
Homocystinuria: A New Inborn Error of Metabolism Associated With Mental Deficiency [PDF]
, 1963 openalex +1 more source
Scientific Reports, 2019 Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower +6 more
doaj +1 more source
Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]
, 2019 Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core +1 more source
Historical aspects of inborn errors of metabolism [PDF]
, 1962 H. M. Sinclair
openalex +1 more source
Book Review: Brain Damage by Inborn Errors of Metabolism [PDF]
, 1969 E. F. Scowen
openalex +1 more source
Inborn Errors of Metabolism in Neurology (Wilson's Disease, Refsum's Disease and Lipidoses) [PDF]
, 1971 J. N. Cumings
openalex +1 more source
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies [PDF]
, 1975 Hildegard Przyrembel +6 more
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Inborn errors of immunity in adulthood
Allergy, Asthma & Clinical ImmunologyAbstractInborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI cases are accounted for by adults. Delayed diagnosis, late symptom onset, and IEI phenocopies can all lead
Joanne J. F. Wang +7 more
openaire +3 more sources
Combined immunodeficiency and inborn errors of purine metabolism [PDF]
, 1978 H.J. Meuwissen, Bernard Pollara
openalex +1 more source