Case Report

Published on 01 May 2024

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

in Genetics of Common and Rare Diseases

Federico Baltar
Camila Simoes
Francisco Garagorry
Martín Graña
Soledad Rodríguez
María Haydée Aunchayna
Alejandra Tapié
Alfredo Cerisola
Gabriel González
Hugo Naya

Frontiers in Pediatrics

doi 10.3389/fped.2024.1379254

1,169 views

Case Report

Published on 30 Apr 2024

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

in Genetics of Common and Rare Diseases

Amal Y. Kentab
Yara Alsalloum
Mai Labani
Abrar Hudairi
Muddathir H. Hamad
Dima Z. Jamjoom
Ali H. Alwadei
Reem M. Alhammad
Fahad A. Bashiri

Frontiers in Pediatrics

doi 10.3389/fped.2024.1377515

1,436 views

Case Report

Published on 25 Apr 2024

Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology

in Genetics of Common and Rare Diseases

Yanjun Wang
Ling Hang
Weihua Shou
Cuifen Li
Fangling Dong
Xingxing Feng
Ruohong Jin
Bin Li
Shufang Xiao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1363728

1,036 views

Original Research

Published on 22 Apr 2024

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

in Genetics of Common and Rare Diseases

Danya Salah Baz
Dareen Baz
Fawzah Alrwuili
Abdullah Aldowaish
Hanan E. Shamseldin
Ayman Elhomoudi
Fowzan S. Alkuraya

Frontiers in Pediatrics

doi 10.3389/fped.2024.1392444

1,142 views

Case Report

Published on 03 Apr 2024

Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1

in Genetics of Common and Rare Diseases

Lu Wang
Haiquan Xu
Jianbo Shu
Dandan Yan
Dong Li
Chunquan Cai

Frontiers in Pediatrics

doi 10.3389/fped.2024.1346987

981 views

Case Report

Published on 03 Apr 2024

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

in Genetics of Common and Rare Diseases

Takuya Hiraide
Taiju Hayashi
Yusuke Ito
Rei Urushibata
Hiroshi Uchida
Ryoichi Kitagata
Hidetoshi Ishigaki
Tsutomu Ogata
Hirotomo Saitsu
Tokiko Fukuda

Frontiers in Pediatrics

doi 10.3389/fped.2024.1360867

1,283 views

Case Report

Published on 02 Apr 2024

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

in Genetics of Common and Rare Diseases

Deepali Bhalla
Sunil Sati
Donald Basel
Vijender Karody

Frontiers in Pediatrics

doi 10.3389/fped.2024.1341841

974 views

Case Report

Published on 28 Mar 2024

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo

in Genetics of Common and Rare Diseases

S. Mora-Martinez
Natalia Castaño-Giraldo
Humberto Alejandro Nati-Castillo
Laura Barahona Machado
Tatiana Mora Arbeláez
G. Gordillo-Gonzalez
Juan S. Izquierdo-Condoy

Frontiers in Pediatrics

doi 10.3389/fped.2024.1323014

1,646 views

Case Report

Published on 22 Mar 2024

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

in Genetics of Common and Rare Diseases

Caichuan Wei
Haiju Zhang
Miaoying Fu
Jingping Ye
Baozhen Yao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1305754

1,415 views
1 citation

Case Report

Published on 21 Mar 2024

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

in Genetics of Common and Rare Diseases

Doviltyte Zina
Kiudeliene Rosita
Zviniene Kristina
Rutkauskiene Giedre
Masalskiene Jurate

Frontiers in Pediatrics

doi 10.3389/fped.2024.1322142

2,119 views
2 citations

Original Research

Published on 20 Mar 2024

The significance of machine learning in neonatal screening for inherited metabolic diseases

in Genetics of Common and Rare Diseases

Xiangchun Yang
Shuxia Ding
Jianping Zhang
Zhuojie Hu
Danyan Zhuang
Fei Wang
Shanshan Wu
Changshui Chen
Haibo Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1366891

1,627 views

Case Report

Published on 18 Mar 2024

Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

in Genetics of Common and Rare Diseases

Fengge Wang
Xuemei Jin
Yongning Zhu
Shuli Jiang
Xiaoyan Zhang
Yanping Wang
Dongmei Man
Fuling Wang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1327742

1,449 views

Systematic Review

Published on 15 Feb 2024

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis

in Genetics of Common and Rare Diseases

A. D. Dornelles
A. P. P. Junges
B. Krug
C. Gonçalves
H. A. de Oliveira Junior
I. V. D. Schwartz

Frontiers in Pediatrics

doi 10.3389/fped.2024.1310317

2,946 views
2 citations

Original Research

Published on 13 Feb 2024

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

in Genetics of Common and Rare Diseases

Van Khanh Tran
My Ha Cao
Thi Thanh Hai Nguyen
Phuong Thi Le
Hai Anh Tran
Dung Chi Vu
Ha Thu Nguyen
Mai Thi Phương Nguyen
The-Hung Bui
Thanh Binh Nguyen

Frontiers in Pediatrics

doi 10.3389/fped.2024.1165492

1,564 views
2 citations

Original Research

Published on 31 Jan 2024

Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model

in Genetics of Common and Rare Diseases

Quentin Raas
Austin Wood
Tamara J. Stevenson
Shanna Swartwood
Suzanne Liu
Rangaramanujam M. Kannan
Sujatha Kannan
Joshua L. Bonkowsky

Frontiers in Pediatrics

doi 10.3389/fped.2024.1326886

2,132 views

Case Report

Published on 25 Jan 2024

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

in Genetics of Common and Rare Diseases

Zuzana Kolkova
Peter Durdik
Veronika Holubekova
Anna Durdikova
Milos Jesenak
Peter Banovcin

Frontiers in Pediatrics

doi 10.3389/fped.2024.1339664

2,058 views
1 citation

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Articles

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

The significance of machine learning in neonatal screening for inherited metabolic diseases

Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report