Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Journal of Inherited Metabolic Disease

• Publication date

  2014-07-15

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/s10545-014-9729-0PMID 25022222
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cost-effectiveness of expanded newborn screening in Texas.

  2013cited by this paper
• Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

  2012influential reference
• Cost-effectiveness of expanded newborn screening in Texas.

  2012cited by this paper
• Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India

  2011influential reference
• What is a systematic review?

  2011cited by this paper
• Diagnosis and management of glutaric aciduria type I – revised recommendations

  2011cited by this paper
• Expanded newborn screening in Greece: 30 months of experience

  2010cited by this paper
• Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

  2010cited by this paper
• Incidence of maple syrup urine disease in Portugal.

  2010cited by this paper
• Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

  2010cited by this paper
• Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

  2010cited by this paper
• Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

  2009influential reference
• International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes

  2008cited by this paper
• Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests

  2008cited by this paper
• Development, Validation and Application of Tandem Mass Spectrometry for Screening of Inborn Metabolic Disorders in Kuwaiti Infants

  2007influential reference
• Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

  2007cited by this paper
• Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg

  2007cited by this paper
• The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening.

  2007cited by this paper
• A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

  2006cited by this paper
• The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

  2006cited by this paper
• Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.

  2005cited by this paper
• Neonatal screening for defects of the mitochondrial trifunctional protein.

  2005cited by this paper
• Systematic review of prevalence studies of autism spectrum disorders

  2005cited by this paper
• PRADESH, INDIA

  2004cited by this paper
• Integration of new genetic diseases into statewide newborn screening: New England experience

  2004cited by this paper
• Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

  2004influential reference
• Clinical-effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review

  2004cited by this paper
• Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.

  2004influential reference
• Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan.

  2003influential reference
• Expanded newborn screening.

  2003cited by this paper
• Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

  2003influential reference
• The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.

  2002influential reference
• Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

  2000cited by this paper
• Application of electrospray tandem mass spectrometry to neonatal screening.

  1999cited by this paper
• Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

  1998influential reference
• Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

  1994cited by this paper
• Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

  1990cited by this paper
• The Nationwide Survey.

  1972cited by this paper

• Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis

  2025cites this paper
• Novel Homozygous MTHFR Variant Causing Homocystinuria: Subtle Phenotypic Clues in Carriers

  2025cites this paper
• Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review

  2025cites this paper
• Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis

  2025cites this paper
• Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions

  2025cites this paper
• Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

  2024influential citation
• TFP/LCHAD Deficiency Due to HADHA Gene Mutation

  2024cites this paper
• Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein

  2024cites this paper
• Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

  2024cites this paper
• Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns

  2024cites this paper
• Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I

  2024cites this paper
• Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran

  2024cites this paper
• Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice

  2023cites this paper
• Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen

  2023cites this paper
• Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria

  2023cites this paper
• Pyridoxine non-responsive R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.

  2022cites this paper
• Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism

  2022cites this paper
• Causes of Sudden Unexpected Death in Childhood: Autopsy Findings from a Specialist Centre

  2022cites this paper
• How longitudinal observational studies can guide screening strategy for rare diseases

  2022cites this paper
• Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency

  2022cites this paper
• Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

  2021influential citation
• Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients

  2021cites this paper
• Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse

  2021cites this paper
• Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

  2021cites this paper
• Mitochondrial dysfunction in inborn errors of metabolism

  2021cites this paper
• The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience

  2021cites this paper
• Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  2021cites this paper
• Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

  2021cites this paper
• Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

  2020cites this paper
• Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

  2020influential citation
• Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.

  2020cites this paper
• Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.

  2020cites this paper
• Current perspective and scope of fetal therapy: part 2

  2020cites this paper
• The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism

  2020cites this paper
• Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.

  2020cites this paper
• Neurometabolic Disorders

  2020cites this paper
• Genetic Abnormalities of the Crystalline Lens

  2019cites this paper
• Classical homocystinuria: from cystathionine beta-synthase deficiency to novel enzyme therapies.

  2019cites this paper
• Neurological manifestations of organic acidurias

  2019cites this paper
• Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

  2019cites this paper
• Glycerol esters of butyric and valeric acids counteract diet-related disorders: Prevention of metabolic disturbances induced by high-fat intake

  2019cites this paper
• Homocystinuria: Literature Review and Clinical Case Description

  2019cites this paper
• Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants

  2019cites this paper
• Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?

  2019cites this paper
• ¿Sepsis neonatal con hiperamonemia? Diagnóstico clínico precoz de una acidemia isovalérica neonatal

  2019cites this paper
• Analysis of the Qatari R336C cystathionine β‐synthase protein in mice

  2019cites this paper
• Human Mutation

  2019cites this paper
• CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

  2018cites this paper
• Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.

  2018cites this paper
• A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

  2018cites this paper
• Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

  2018cites this paper
• High Prevalence of c.1528G>C Rearrangement in Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from Ukraine

  2018cites this paper
• Neuroimaging Findings of Organic Acidemias and Aminoacidopathies.

  2018cites this paper
• Falsos positivos en cribado neonatal: Elevación de C5-carnitina en neonatos por tratamiento preparto con cefditoreno pivoxilo

  2018cites this paper
• Organic acidurias in adults: late complications and management

  2018cites this paper
• Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis

  2018cites this paper
• Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.

  2018cites this paper
• Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

  2018influential citation
• Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability

  2018cites this paper
• Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

  2017cites this paper
• Amino acids disorders

  2017cites this paper
• Cystathionine β-synthase deficiency: Of mice and men.

  2017cites this paper
• Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism.

  2017cites this paper
• Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

  2016cites this paper
• Fisioterapia en la función motora gruesa y en el equilibrio en las alteraciones neuromotoras de origen metabólico: Revisión Sistemática Cualitativa

  2015cites this paper
• [GENETIC AND METABOLIC URGENCIES IN THE NEONATAL INTENSIVE CARE UNIT: MAPLE SYRUP URINE DISEASE].

  2015cites this paper