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Lista de obras de Gerard Berry

1 H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis ⬇️

artículo científico publicado el 1 de mayo de 1998

31P NMR analysis of red blood cell UDPGlucose and UDPGalactose: Comparison with HPLC and enzymatic methods

scientific article published on 01 April 1992

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

scientific article published on 15 June 2018

A 9-Month-Old Boy with Seizures and Discrepant Urine Tryptophan Concentrations

scientific article published on 01 April 2011

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

artículo científico publicado en 2015

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

artículo científico publicado en 2014

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

article

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

artículo científico publicado en 2016

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

artículo científico publicado en 2019

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia

artículo científico publicado en 2014

A syndrome of congenital hyperinsulinism and hyperammonemia

artículo científico publicado en 1997

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability

scientific article published on 01 December 2018

Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia.

artículo científico publicado en 1999

Acidosis associated with dietotherapy of maple syrup urine disease

artículo científico publicado en 1980

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

artículo científico publicado en 2017

Acute Illness Protocol for Maple Syrup Urine Disease

artículo científico publicado en 2018

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia

artículo científico publicado en 2017

Acute Illness Protocol for Urea Cycle Disorders

scientific article published on 01 June 2018

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

scientific article published on 01 December 1988

Apparent Galactose Appearance Rate in Human Galactosemia Based on Plasma [13C]Galactose Isotopic Enrichment

artículo científico publicado en 2000

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

artículo científico publicado en 2018

Back to the future: from genome to metabolome

artículo científico publicado en 2012

Behavioural phenotyping of sodium-myo-inositol cotransporter heterozygous knockout mice with reduced brain inositol

artículo científico publicado en 2006

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

artículo científico publicado en 2017

Biliary Atresia Associated With a Fatty Acid Oxidation Defect

artículo científico publicado en 2002

Bumetanide Enhances Phenobarbital Efficacy in a Rat Model of Hypoxic Neonatal Seizures ⬇️

artículo científico publicado el 11 de marzo de 2013

CMP-dependent phosphatidylinositol:myo-inositol exchange activity in isolated nerve-endings

artículo científico publicado en 1983

Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of [...]

scientific journal article

Commentary

article published in 2010

Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders

artículo científico publicado en 1995

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.

artículo científico publicado en 2004

Copy number variation plays an important role in clinical epilepsy

artículo científico publicado en 2014

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

artículo científico publicado en 1991

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

artículo científico publicado en 2012

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria

artículo científico publicado en 2016

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

artículo científico publicado en 2018

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

artículo científico publicado en 2010

Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome

artículo científico publicado en 1995

Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.

artículo científico publicado en 2016

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

artículo científico publicado en 2012

Effect of Glucose and Galactose Loading in Normal Subjects on Red and White Blood Cell Uridine Diphosphate Sugars

artículo científico publicado en 1995

Effect of elevated potassium on phospholipid and inositol metabolism of isolated nerve endings

scientific article published on 01 January 1986

Effects of Triheptanoin (UX007) in Patients with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD): Results from an Open-Label, Long-Term Extension Study

artículo científico publicado en 2020

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency

artículo científico publicado en 2005

Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

artículo científico publicado en 1995

Epimerase-deficiency galactosemia is not a binary condition

artículo científico publicado en 2005

Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

artículo científico publicado en 2016

Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

scholarly article published in Journal of Inherited Metabolic Disease

Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene

artículo científico publicado en 2001

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

artículo científico publicado en 2020

Exploring concordance and discordance for return of incidental findings from clinical sequencing

artículo científico publicado en 2012

Extended [13C]galactose oxidation studies in patients with galactosemia

artículo científico publicado en 2004

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

artículo científico publicado en 2017

Fertility preservation in female classic galactosemia patients

artículo científico publicado en 2013

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

article

Galactokinase deficiency: lessons from the GalNet registry

artículo científico publicado en 2020

Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia

artículo científico publicado en 2014

Galactose metabolism and health

artículo científico

Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet

scientific journal article

Galactosemia and amenorrhea in the adolescent

artículo científico publicado en 2008

Galactosemia: when is it a newborn screening emergency?

artículo científico

Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency

scientific article published on 01 January 1995

Glycogen synthase kinase-3 is essential for β-arrestin-2 complex formation and lithium-sensitive behaviors in mice

artículo científico publicado en 2011

Hereditary Galactosemia

artículo científico publicado en 2018

High-performance liquid chromatography of phospholipids with UV detection: optimization of separations on silica

artículo científico publicado en 1981

High-performance liquid chromatography of phospholipids: quantitation by phosphate analysis

artículo científico publicado en 1983

Homozygote inositol transporter knockout mice show a lithium-like phenotype

artículo científico publicado en 2008

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

artículo científico publicado en 2012

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea

artículo científico publicado en 2018

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

scientific article published on 13 May 2019

Impaired fertility and motor function in a zebrafish model for classic galactosemia

artículo científico publicado en 2017

In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency

artículo científico publicado en 1995

Inositol-related gene knockouts mimic lithium's effect on mitochondrial function

artículo científico publicado en 2013

Intellectual outcome in children with maple syrup urine disease

artículo científico publicado en 1991

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

artículo científico publicado en 2016

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

scientific article published on 30 November 2010

Is prenatal myo‐inositol deficiency a mechanism of CNS injury in galactosemia? ⬇️

artículo científico publicado el 19 de enero de 2011

Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy

artículo científico publicado en 1988

KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability

artículo científico publicado en 2014

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

Kinetic evidence for compartmentalization of myo-inositol in hepatocytes

article

Knockout mice in understanding the mechanism of action of lithium

artículo científico publicado en 2009

Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers

artículo científico publicado en 2014

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

artículo científico publicado en 2017

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

artículo científico publicado en 2006

Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea

scientific journal article

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

artículo científico publicado en 2003

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation

artículo científico publicado en 2014

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency

artículo científico publicado en 1993

Metabolic profiling

artículo científico publicado en 2008

Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

scientific article published on 28 May 2014

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia

artículo científico publicado en 2012

N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels

artículo científico publicado en 2016

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency

artículo científico publicado en 2001

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

artículo científico publicado en 2003

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

artículo científico publicado en 2018

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

artículo científico publicado en 2018

One is the loneliest number: genotypic matchmaking using the electronic health record

artículo científico publicado en 2021

Ornithine transcarbamylase deficiency and pancreatitis

artículo científico publicado en 2001

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

scientific article published on 06 December 2019

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase

artículo científico publicado en 2019

Phenylketonuria Scientific Review Conference: state of the science and future research needs

artículo científico publicado en 2014

Phosphatidylcholine removal from brain lipid extracts expands lipid detection and enhances phosphoinositide quantification by matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry

artículo científico publicado en 2006

Phosphoinositide deficiency due to inositol depletion is not a mechanism of lithium action in brain

artículo científico publicado en 2004

Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.

artículo científico publicado en 2001

Psychosocial developmental milestones in men with classic galactosemia

artículo científico publicado en 2011

Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2010

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

artículo científico publicado en 2013

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency

artículo científico publicado en 2012

Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders

artículo científico publicado en 1992

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

scientific article published on 01 January 2019

Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia

artículo científico publicado en 1995

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

artículo científico publicado en 2012

SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior

scientific journal article

Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue

scientific article published on 19 February 2011

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

artículo científico publicado en 2008

Skeletal health in adult patients with classic galactosemia

artículo científico publicado en 2012

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

artículo científico publicado en 2016

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

artículo científico publicado en 2000

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

artículo científico publicado en 2007

Targeted exome sequencing of suspected mitochondrial disorders

artículo científico publicado en 2013

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

artículo científico publicado en 2013

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency

scientific article published on 22 January 2019

The adult galactosemic phenotype

artículo científico publicado en 2011

The complexity of newborn screening follow-up in phenylketonuria

artículo científico publicado en 2014

The concentration of red blood cell UDPGlucose and UDPGalactose determined by high-performance liquid chromatography

artículo científico publicado en 1991

The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia

artículo científico publicado en 2000

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

artículo científico publicado en 2012

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

artículo científico publicado en 2002

The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency

artículo científico publicado en 2004

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation

artículo científico publicado en 2020

The role of polyols in the pathophysiology of hypergalactosemia ⬇️

artículo científico publicado el 1 de enero de 1995

The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter

artículo científico publicado en 1997

The unexplored potential of the pentose phosphate pathway in health and disease

artículo científico publicado en 2008

Transcription of the sodium/myo-inositol cotransporter gene is regulated by multiple tonicity-responsive enhancers spread over 50 kilobase pairs in the 5'-flanking region

artículo científico publicado en 1998

Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies

artículo científico publicado en 2010

Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study

artículo científico publicado en 2014

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia

artículo científico publicado en 1999

Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders

scientific article published on 01 June 1991

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

artículo científico publicado en 2013

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report ⬇️

artículo científico publicado en 2013

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