Joshua Manor
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View article: In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction Open
View article: Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC–MS/MS
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC–MS/MS Open
In recent years, pathogenic variants in ARS genes, encoding aminoacyl-tRNA synthetases (aaRSs), have been associated with human disease. Patients harbouring pathogenic variants in ARS genes have clinical signs partly unique to certain aaRS…
View article: Genetic analysis of the X-linked Adrenoleukodystrophy<i>ABCD1 gene</i>in<i>Drosophila</i>uncovers a role in Peroxisomal dynamics
Genetic analysis of the X-linked Adrenoleukodystrophy<i>ABCD1 gene</i>in<i>Drosophila</i>uncovers a role in Peroxisomal dynamics Open
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 ( ABCD1) gene, leading to the accumulation of very long-chain fa…
View article: The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel Open
Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra‐rare autosomal‐recessive inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes. With approximately 30 patients reported to date, DLD deficien…
View article: NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction Open
View article: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient Open
Spontaneous chemical reactions and substrate promiscuity of metabolic enzymes can result in the generation of cytotoxic byproducts which are processed by several dedicated, highly conserved enzymatic repair systems. 1 Such is the case with…
View article: ABCD1 and X‐linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models
ABCD1 and X‐linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models Open
X‐linked adrenoleukodystrophy (X‐ALD) is a phenotypically heterogeneous disorder involving defective peroxisomal β‐oxidation of very long‐chain fatty acids (VLCFAs), due to mutation in the ABCD1 gene. X‐ALD is the most common peroxisomal i…
View article: A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature Open
Trisomy 16 is the most common autosomal trisomy in humans, which is almost uniformly embryonic lethal. Partial trisomy 16 including a segment of the long arm of chromosome 16 is occasionally compatible with life and has been associated wit…
View article: Corrigendum: Overgrowth Syndromes—Evaluation, Diagnosis, and Management
Corrigendum: Overgrowth Syndromes—Evaluation, Diagnosis, and Management Open
[This corrects the article DOI: 10.3389/fped.2020.574857.].
View article: Overgrowth Syndromes—Evaluation, Diagnosis, and Management
Overgrowth Syndromes—Evaluation, Diagnosis, and Management Open
Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some inst…
View article: Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases Open
Background As genetic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at …
View article: Clinical utility of genetic and genomic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases
Clinical utility of genetic and genomic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases Open
As genetic and genomic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at…
View article: ICE volume 37 issue 8 Cover and Front matter
ICE volume 37 issue 8 Cover and Front matter Open
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