Pediatric Neurology Briefs, 1993 An X-linked recessive disease with a fatal course in early childhood is reported in a five-generation Dutch family from the Netherlands.
J Gordon Millichap
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Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature
Journal of Biochemical and Clinical Genetics, 2019 Background: Bainbridge-Ropers syndrome (BRPS) is characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, profound speech delays, and intellectual disability and dysmorphic features.
Faroug Ababneh +2 more
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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1,
Ankur Singh +3 more
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Case report: The art of anesthesiology—Approaching a minor procedure in a child with MPI-CDG
Frontiers in Pharmacology, 2022 Background: Protein glycosylation plays an important role in post-translational modification, which defines a broad spectrum of protein functions.
En-Che Chang +7 more
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Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
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Molecular Cytogenetics, 2011 Background Genotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding analysis for breakpoint designation.
Weimer Jörg +6 more
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
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A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]
, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna +6 more
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