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Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

Neurology, 2011-10, Vol.77 (17), p.1629

2011

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Neurological implications of urea cycle disorders

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.865-879

2007

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MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia

American journal of neuroradiology : AJNR, 2015-01, Vol.36 (1), p.194-201

2015

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Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency

American journal of neuroradiology : AJNR, 2010-10, Vol.31 (9), p.1719-1723

2010

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Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Case reports in genetics, 2020-05, Vol.2020, p.7024735-5

2020

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Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients

Neuropediatrics, 1997-08, Vol.28 (4), p.198

1997

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Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

Annals of neurology, 2001-06, Vol.49 (6), p.706-711

2001

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1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.21-30

2008

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Treatment of diencephalic syndrome with chemotherapy: Growth, tumor response, and long term control

Cancer, 1998-07, Vol.83 (1), p.166-172

1998

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So what? Does the test lead to improved health outcomes?

Neurology, 2012-02, Vol.78 (6), p.440

2012

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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

Molecular syndromology, 2010-01, Vol.1 (2), p.59-66

2010

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High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

Molecular syndromology, 2012-09, Vol.3 (3), p.140-142

2012

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TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

Molecular syndromology, 2011-05, Vol.1 (5), p.211-222

2011

Volltextzugriff (PDF)

Wernicke's encephalopathy due to self starvation in a child

The Lancet (British edition), 1998-06, Vol.351 (9117), p.1704-1705

1998

Volltextzugriff (PDF)

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)

Application of clinical genetics, 2019, Vol.12, p.191-202

2019

Volltextzugriff (PDF)

Cognitive outcome in urea cycle disorders

Molecular genetics and metabolism, 2004-04, Vol.81, p.58-62

2004

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Expanding the diagnostic and research toolbox for inborn errors of metabolism: The role of magnetic resonance spectroscopy

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.2-9

Gropman, Andrea L

2005

Volltextzugriff (PDF)

Diagnosis and treatment of childhood mitochondrial diseases

Current neurology and neuroscience reports, 2001-04, Vol.1 (2), p.185-194

Gropman, A L

2001

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The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations

Mitochondrion, 2004-09, Vol.4 (5-6), p.503-520

Gropman, Andrea L

2004

Volltextzugriff (PDF)

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Case reports in genetics, 2020, Vol.2020, p.7024735-7024735

2020

Volltextzugriff (PDF)

Whole exome sequencing in patients with white matter abnormalities

Annals of neurology, 2016-06, Vol.79 (6), p.1031-1037

2016

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Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Genetics in medicine, 2002-05, Vol.4 (3), p.118-125

2002

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Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome

Journal of autism and developmental disorders, 2024-02, Vol.54 (2), p.725-737

2024

Volltextzugriff (PDF)

Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort

Frontiers in pediatrics, 2021-12, Vol.9, p.736255-736255

2021

Volltextzugriff (PDF)

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Mitochondrion, 2013-11, Vol.13 (6), p.681-687

2013

Volltextzugriff (PDF)

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Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

Neurological implications of urea cycle disorders

MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia

Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

Treatment of diencephalic syndrome with chemotherapy: Growth, tumor response, and long term control

So what? Does the test lead to improved health outcomes?

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

Wernicke's encephalopathy due to self starvation in a child

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)

Cognitive outcome in urea cycle disorders

Expanding the diagnostic and research toolbox for inborn errors of metabolism: The role of magnetic resonance spectroscopy

Diagnosis and treatment of childhood mitochondrial diseases

The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Whole exome sequencing in patients with white matter abnormalities

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome

Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

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