ORIGINAL RESEARCH
Published on 29 Aug 2022
Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ
doi 10.3389/fgene.2022.765637
- 1,305 views
- 1 citation
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Inherited Metabolic Diseases in Pediatrics: Clinical and Molecular Features
Inherited Metabolic Diseases in Pediatrics: Clinical and Molecular Features
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Articles
CASE REPORT
Published on 18 May 2022
NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature
doi 10.3389/fped.2022.812408
- 2,887 views
- 7 citations
CASE REPORT
Published on 28 Apr 2022
PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report
doi 10.3389/fped.2022.825515
- 1,123 views
- 1 citation
CASE REPORT
Published on 15 Apr 2022
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
doi 10.3389/fped.2022.860990
- 1,520 views
- 2 citations
CASE REPORT
Published on 14 Apr 2022
Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review
doi 10.3389/fgene.2022.856552
- 2,327 views
- 3 citations
ORIGINAL RESEARCH
Published on 28 Mar 2022
Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry
doi 10.3389/fped.2022.814461
- 3,370 views
- 8 citations
BRIEF RESEARCH REPORT
Published on 24 Mar 2022
TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy
doi 10.3389/fgene.2022.833495
- 1,532 views
- 4 citations
ORIGINAL RESEARCH
Published on 18 Mar 2022
The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis
doi 10.3389/fgene.2022.867413
- 1,231 views
- 4 citations
ORIGINAL RESEARCH
Published on 16 Mar 2022
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients
doi 10.3389/fgene.2022.825793
- 1,960 views
- 3 citations
ORIGINAL RESEARCH
Published on 14 Mar 2022
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
doi 10.3389/fgene.2022.823687
- 3,373 views
- 8 citations
CASE REPORT
Published on 11 Mar 2022
Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
doi 10.3389/fgene.2022.845246
- 3,647 views
- 1 citation
CASE REPORT
Published on 10 Mar 2022
Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia
doi 10.3389/fped.2022.831284
- 1,551 views
- 1 citation
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
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- 3.6 citescore