Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. [PDF]
Zheng Z, Peng W, Lin Y, Lin W, Wang G.
europepmc +1 more source
α 1 -Antitrypsin Deficiency and Susceptibility to Lung Disease
H.E. Evans, Nora S. Bognacki
openalex +1 more source
Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity. [PDF]
Segura-Tudela A+10 more
europepmc +1 more source
Role of Vitamin D Supplementation in Chronic Liver Disease: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. [PDF]
Martinekova P+11 more
europepmc +1 more source
α-1-Antitrypsin Deficiency in Liver Disease: The Extent of the Problem
Rosemarie Lucianin Fisher+2 more
openalex +1 more source
Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]
Harings T+6 more
europepmc +1 more source
Effectiveness of nutrition interventions in low and middle income countries: an evidence summary [PDF]
Bhandol, Janine+8 more
core
ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish. [PDF]
Xian C, Luo Q, Li W, Zou L, Liu J.
europepmc +1 more source
Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia. [PDF]
Idárraga GDO+5 more
europepmc +1 more source