(Q37592037)

21 August 2017

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title

Inborn errors of metabolism and motor disturbances in children (English)

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21 August 2017

M Serrano

3

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Nicole I Wolf

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author name string

A García-Cazorla

1

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21 August 2017

N I Wolf

2

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21 August 2017

B Pérez-Dueñas

4

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21 August 2017

M Pineda

5

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21 August 2017

J Campistol

6

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21 August 2017

E Fernández-Alvarez

7

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21 August 2017

J Colomer

8

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21 August 2017

S DiMauro

9

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21 August 2017

G F Hoffmann

10

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21 August 2017

publication date

1 October 2009

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Journal of Inherited Metabolic Disease

21 August 2017

published in

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21 August 2017

volume

32

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21 August 2017

issue

5

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21 August 2017

page(s)

618-629

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https://scigraph.springernature.com/pub.10.1007/s10545-009-1194-9

21 August 2017

exact match

0 references

cites work

[Type I glutaric aciduria: an unrecognized cause of progressive dystonia]

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1194-9

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1194-9

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1194-9

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1194-9

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1194-9

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

21 January 2018

1 reference

12 December 2020

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

1 reference

12 December 2020

Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant

1 reference

12 December 2020

Neurologic crises in hereditary tyrosinemia

1 reference

12 December 2020

Mitochondrial myopathy simulating spinal muscular atrophy

1 reference

12 December 2020

Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia

1 reference

12 December 2020

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

1 reference

12 December 2020

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

1 reference

12 December 2020

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

1 reference

12 December 2020

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects

1 reference

12 December 2020

Invited article: an MRI-based approach to the diagnosis of white matter disorders

1 reference

12 December 2020

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients

1 reference

12 December 2020

Demyelination and inborn errors of the single carbon transfer pathway.

1 reference

12 December 2020

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

1 reference

12 December 2020

Methylmalonic and propionic aciduria

1 reference

12 December 2020

Recovery from neurological deficits following biotin treatment in a biotinidase Km variant

1 reference

12 December 2020

Mitochondrial disease mimicking Charcot-Marie Tooth disease

1 reference

12 December 2020

Differential diagnosis of cerebellar atrophy in childhood

1 reference

12 December 2020

Leukodystrophies: clinical and genetic aspects

1 reference

12 December 2020

Early-onset familial parkinsonism due to POLG mutations.

1 reference

12 December 2020

Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report

1 reference

12 December 2020

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

1 reference

12 December 2020

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

1 reference

12 December 2020

Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia

1 reference

12 December 2020

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

1 reference

12 December 2020

Neuropathy and Fabry's disease

1 reference

12 December 2020

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

1 reference

12 December 2020

Peripheral neuropathy and inborn errors of metabolism in adults

1 reference

12 December 2020

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease

1 reference

12 December 2020

Peroxisomes, lipid metabolism, and peroxisomal disorders

1 reference

12 December 2020

Cerebrospinal fluid investigations for neurometabolic disorders

1 reference

12 December 2020

Metabolic intolerance to exercise

1 reference

12 December 2020

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder

1 reference

12 December 2020

Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy

1 reference

12 December 2020

Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature

1 reference

12 December 2020

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

1 reference

12 December 2020

GLUT‐1 deficiency without epilepsy—an exceptional case

1 reference

12 December 2020

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects

1 reference

12 December 2020

Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

1 reference

12 December 2020

Hereditary episodic ataxias

1 reference

12 December 2020

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

12 December 2020

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

1 reference

12 December 2020

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

1 reference

12 December 2020

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

1 reference

12 December 2020

10.1007/S10545-009-1194-9

Identifiers

DOI

1 reference

21 August 2017

1 reference