Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study [PDF]
Orphanet Journal of Rare DiseasesBackground Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous +11 more
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Morbidity and Mortality Profile of Neonates Admitted in Special Newborn Care Unit in a Tertiary Care Hospital: A Retrospective Study [PDF]
Journal of Clinical and Diagnostic Research, 2023 Introduction: Newborn period is the most vulnerable phase of life and deaths during first 28 days of life account for 70% of all infant deaths and 56% of all deaths of under-5 year in children.
Mahibur Rahman +2 more
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Congenital anomalies in Santa Catarina: case distribution and trends in 2010–2018
Revista Paulista de Pediatria, 2021 Objective: To evaluate the distribution of cases of congenital anomalies in the state of Santa Catarina by health macro-region, to determine the frequency according to maternal and neonatal variables, to estimate the related mortality, and the trends in ...
Bruna Muraro Vanassi +4 more
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International Journal of Endocrinology, 2022 Home quarantine due to the global coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on children. Lifestyle changes have led to an increase in precocious puberty (PP) among girls, and the underlying risk factors for this remain ...
Dongxia Fu +7 more
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Morbidity and mortality profile of neonates admitted in a special care newborn unit of a tertiary care teaching hospital of Assam, India [PDF]
New Indian Journal of OBGYN, 2020 Objectives: The objective of study is to estimate the morbidity and mortality of newborns admitted at Special Care Newborn Unit (SCNU) of tertiary care hospital.
Kutubur Rahman, Rukeya Begum
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MR Neuroimaging in Pediatric Inborn Errors of Metabolism
Diagnostics, 2022 Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early.
Lillian M. Lai +2 more
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Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene [PDF]
Vojnosanitetski Pregled, 2015 Background/Aim. Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy.
Žarkov Marija +8 more
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Emphasized the diagnosis and therapy of curative neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
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Advances in quantitative MRI of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin +4 more
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Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]
Vojnosanitetski Pregled, 2012 Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan +3 more
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