Results 141 to 150 of about 36,492 (239)

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya   +7 more
wiley   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report. [PDF]

Medicine (Baltimore), 2020
Chen C, Hao Y, Liang J, Liu X.
europepmc   +1 more source

Congenital Microcephaly [PDF]

, 2020
openaire   +1 more source

Spatiotemporal Analysis of the Population Risk of Congenital Microcephaly in Pernambuco State, Brazil. [PDF]

Int J Environ Res Public Health, 2020
Alexander NDE, Souza WV, Rodrigues LC, Braga C, Sá A, Bezerra LCA, Turchi Martelli CM.   +6 more
europepmc   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Microcephaly [PDF]

, 2009
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C., Morris, Monica, Myers, Tammy   +2 more
core  

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Neurological Findings in Children without Congenital Microcephaly Exposed to Zika Virus in Utero: A Case Series Study. [PDF]

Viruses, 2020
Abtibol-Bernardino MR, de Almeida Peixoto LFA, de Oliveira GA, de Almeida TF, Rodrigues GRI, Otani RH, Soares Chaves BC, de Souza Rodrigues C, de Andrade ABCA, de Fatima Redivo E, Fernandes SS, da Costa Castilho M, Gomes Benzecry S, Bôtto-Menezes C, Martinez-Espinosa FE, Costa Alecrim MDG.   +15 more
europepmc   +1 more source