T, Gjemdal, K, Rootwelt
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Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]
Reeves EB +8 more
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Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature. [PDF]
Degroot GN +5 more
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Interface dermatitis in a patient with TRNT1 deficiency: A case report. [PDF]
Gauger AJ +3 more
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From Deficiency to Therapy: Systemic Consequences of ALAS1 Disruption and the Protective Role of 5-ALA. [PDF]
van Wijk K, Nakajima O.
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X-Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report. [PDF]
O'Connor J +4 more
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Diagnostic pitfalls of ESA-resistant anemia due to functional copper deficiency in a dialysis patient: a myelodysplastic syndrome mimic. [PDF]
Ikegishi Y +3 more
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The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]
LipiĆski P, Doroba A.
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Carbidopa/levodopa induced severe vitamin B6 deficiency leading to symptomatic transfusion dependent microcytic Anemia. [PDF]
Lee BK, Gastwirt JP.
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Luspatercept for the treatment of transfusion-dependent non-severe aplastic anemia. [PDF]
Jia X +7 more
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