Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh +5 more
wiley +1 more source
Continuous age-dependent centile curves and preliminary reference intervals for renal biomarkers and electrolytes in healthy Kenyan children under five years: A single-center cross-sectional study. [PDF]
Medicine (Baltimore)Nganda B, Karanja P, Muna K, Moriasi G.
europepmc +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
Laparoscopic Pancreatectomy for Persistent Hyperinsulinemic Hypoglycemia of Infancy - Case Series. [PDF]
J Indian Assoc Pediatr SurgVelloli RG +5 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Health-related quality of life in children with Robin sequence following Tübingen palatal plate treatment in infancy. [PDF]
Arch Dis ChildKiefer H +6 more
europepmc +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Midgut Volvulus Secondary to Intestinal Malrotation in an 11-Year-Old Child With Preserved Bowel Viability: A Rare Delayed Presentation. [PDF]
CureusMohanty A, Anwar AZ, Kumar S.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo +5 more
wiley +1 more source