专题:Metabolism and Genetic Disorders

This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.
最新文献
456 PHENOTYPING PATIENTS WITH NORMAL ACID EXPOSURE TIME USING PH IMPEDANCE MONITORING UNCOVERS OCCULT GERD AND PREDICTS PPI RESPONSE

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The impact of clinical metagenomic testing on patient management: facts versus fantasy

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New genotype-phenotype correlations and management recommendations for individuals with RERE variants

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Validation of DSD Interpreter, a Mobile Application for Point-of-Care Evaluation of Infants with Atypical Genitalia

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From clinical practice to mechanistic insights in ketogenic diets for epilepsy

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Electrochemical discrimination of phenylalanine enantiomers in blood using an ATO-γ-CD nanocomposite-modified SWCNT platform

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Insulin Resistance as a Shared Pathophysiological Driver in Neurological Disorders: a Narrative Review

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Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study

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Riboflavin Deficiency Is Highly Prevalent in Females and Children across High and Low/Middle Income Countries Worldwide

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Unraveling Riboflavin-Mediated Mitochondrial Modulation as a Therapeutic Pathway in Neurological Disorders: An Integrative Systematic Review

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近5年高被引文献
Mitochondrial dynamics in health and disease: mechanisms and potential targets

article Full Text OpenAlex 1210 FWCI110.7358

Mitochondrial dysfunction: mechanisms and advances in therapy

article Full Text OpenAlex 1077 FWCI170.0062

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

article Full Text OpenAlex 875 FWCI104.5993

Multifaceted mitochondria: moving mitochondrial science beyond function and dysfunction

article Full Text OpenAlex 615 FWCI58.1735

Mitochondria in health, disease, and aging

article Full Text OpenAlex 579 FWCI53.8566

Clinical Practice Guideline Revision: Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation

article Full Text OpenAlex 537 FWCI159.6898

Mitochondria at the crossroads of health and disease

article Full Text OpenAlex 445 FWCI70.2165

Ketogenic diet for human diseases: the underlying mechanisms and potential for clinical implementations

article Full Text OpenAlex 390 FWCI36.8181

Molecular mechanisms of mitochondrial dynamics

article Full Text OpenAlex 357 FWCI56.4579

Energy metabolism in health and diseases

article Full Text OpenAlex 350 FWCI135.5099