Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives. [PDF]
Saini AG, Gunasekaran PK, Prasad AN.
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Pharmacomechanical therapy for deep-vein thrombosis [PDF]
Goldhaber, Samuel Z +2 more
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Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis. [PDF]
Huang S +9 more
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Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice. [PDF]
Joschko CP +14 more
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Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts [PDF]
Aleš Hnízda +3 more
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Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect. [PDF]
Xu D +6 more
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P006. Clinical management of migraine attributed to cerebral venous sinus thrombosis [PDF]
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Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar. [PDF]
AlMarzooqi SK +7 more
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Screening Programs for Abdominal Aortic Aneurysms: Luxury or Necessity? [PDF]
Baker, DM +4 more
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Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria. [PDF]
Zhang J +6 more
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