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Growth hormones / Peptide hormones / Rare diseases / Pediatrics / Hypogonadism / Reproductive system / Growth hormone deficiency / Hypodontia / Growth hormone treatment / Health / Biology / Medicine


OBSERVATION 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations Ana Potic, MD; Bernard Brais, MD, MPhil, PhD; Karine Choquet; Raphael Schiffmann, MD, MHSc; Geneviève Bernard, MD, MSc, FRCPC
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City

Dallas / Montreal / London / Edinburgh / /

Company

PPT1 Leukodystrophy Group / Elsevier/Academic Press / Ge / Qiagen / Macmillan / /

Country

Serbia / Canada / United Kingdom / Scotland / /

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Facility

Institute Disease / Bay Institute / Genome Quebec Innovation Center / Montreal Neurological Institute / Baylor Research Institute / University of Belgrade / McGill University Health Center / Montreal Children’s Hospital / Institute of Metabolic Disease / McGill University / /

IndustryTerm

magnetic resonance imaging / magnetic resonance imaging findings / /

MedicalCondition

white matter disorders / overall disease / et al. 4H syndrome / prominent tremor / mild spastic quadriparesis / severe mental retardation / untreated androgen deficiency / leukodystrophy syndrome / hypogonadotrophic hypogonadism / sporadic 4H syndrome / additional hormonal dysfunction / Peripheral neuropathy / 4H Syndrome / disorder / adult GH deficiency / hypersensitivity / progressive cerebellar ataxia / vertical gaze palsy / late-onset GH deficiency / congenital cataracts / MS / infections / Institute Disease / ataxia / GM1 gangliosidosis / GH deficiency II / true hypodontia / Early-onset neuronal degenerative disorders / disease / ADDH / recognized hypogonadism / Hirschsprung disease ERCC8 / Waardenburg syndrome / PPT1 Leukodystrophy Group With Typical Peripheral Nerve Involvement Cockayne syndrome 4H syndrome / Focal motor seizures / such a disorder / hypodontia / fever / POLR3Arelated disorders / Patient With 4H Syndrome / hypogonadotropic hypogonadism / osteoporosis / moderate mental retardation / deficiency / GH deficiency / Gene(s) Leukodystrophy Group Without Typical Peripheral Nerve Involvement Pelizaeus-Merzbacher disease / syndrome / cataract / partial GH deficiency / /

Organization

Japan Endocrine Society / Montreal Children’s Hospital / GH Research Society / McGill University Health Center / European Leukodystrophy Association / Montreal Neurological Institute / Bay Institute / Institute of Metabolic Disease / University of Belgrade / McGill University / HyposCCS Advisory Board / Department of Child Neurology / Genome Quebec Innovation Center / European Society of Endocrinology / American Medical Association / European Society for Pediatric Endocrinology / Baylor Research Institute / Endocrine Society of Australia / Lawson Wilkins Society / /

Person

Raphael Schiffmann / Arch Neurol / Ana Potic / Bernard Brais / Karine Choquet / Ser Montreal Ne / Geneviève Bernard / /

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Position

Author / /

Product

glucagon / valproate sodium / ACTH / Estradiol / Testosterone / /

ProvinceOrState

Texas / Quebec / /

RadioStation

Innes AM / /

Region

southeastern Europe / /

Technology

apoptosis / MRI / magnetic resonance imaging / spectroscopy / /

URL

WWW.ARCHNEUROL.COM / http /

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