Research map: Menkes Disease with a Novel ATP7A Variant
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Papers in this map
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
· Sue M. Richards · 2015 · 33500 citations · Cited by this paper
Optimizing Adult Height in Familial Male-Limited Precocious Puberty: A Case Report
· 2026 · Related
Molecular diagnosis of Menkes disease: Genotype–phenotype correlation
· Lisbeth Birk Møller · 2009 · 89 citations · Cited by this paper
The Gut-Urinary Axis in Pediatrics: Fecal Carriage of ESBL-Producing Escherichia coli and Community-Acquired Urinary Tract Infections
· 2026 · Related
Menkes disease: what a multidisciplinary approach can do
· Asuri Narayan Prasad · 2016 · 59 citations · Cited by this paper
Can Nebulized Epinephrine Prevent Extubation Failure in Neonates?
· 2026 · Related
Copper-histidine therapy: a targeted metabolic intervention for Menkes disease
· Batool Ailiya · 2026 · 1 citation · Cited by this paper
Clarifications: NEPTUNE Study
· 2026 · Related
HLA Typing in Pediatric Celiac Disease: From Genetic Association to Clinical Application
· 2026 · Related
Ceftriaxone-Resistant Enteric Fever Outbreak in Children From Thane: A Multicenter Prospective Study
· 2026 · Related
Universal Early-Life Screening in India: Time for a National Integrated Strategy
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Incidence and Independent Risk Factors of Central Venous Catheter-Related Thrombosis in Critically Ill Children: A Prospective Study in Vietnam
· 2026 · Related
Obesity Interpreter: A Digital Tool for Assessment of Childhood Obesity
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