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Genetic mimics of cerebral palsy
Genetic mimics of cerebral palsy
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Genetic mimics of cerebral palsy

Pearson, Toni S. ; Pons, Roser ; Ghaoui, Roula ; Sue, Carolyn M.

Movement disorders, 2019-05, Vol.34 (5), p.625-636 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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2
Genotypic and phenotypic spectrum in attenuated variants of Lesch–Nyhan disease
Genotypic and phenotypic spectrum in attenuated variants of Lesch–Nyhan disease
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Genotypic and phenotypic spectrum in attenuated variants of Lesch–Nyhan disease

Fu, Rong ; Chen, Chung-Jen ; Jinnah, H.A.

Molecular genetics and metabolism, 2014-08, Vol.112 (4), p.280-285 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Torres, Rosa J ; Puig, Juan G

Orphanet journal of rare diseases, 2007-12, Vol.2 (1), p.48-48, Article 48 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report
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Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report

Lee, Jungwon ; Jung, Sung Mee ; Jeon, Sungmin

Medicine (Baltimore), 2020-08, Vol.99 (34), p.e21847 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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5
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
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Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency

Madeo, Annalisa ; Di Rocco, Maja ; Brassier, Anaïs ; Bahi-Buisson, Nadia ; De Lonlay, Pascale ; Ceballos-Picot, Irène

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.147-157 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome
Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome
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Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome

Zhang, Tian ; Briere, Julie M. ; Leeman, Kristen T. ; Wojcik, Monica H. ; Agrawal, Pankaj B.

Journal of genetic counseling, 2022-12, Vol.31 (6), p.1434-1437 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report
Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report
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Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report

Eita, Aliaa Abdelmoniem Bedeir

BMC oral health, 2022-02, Vol.22 (1), p.26-26, Article 26 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder
Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder
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Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder

Dogan, Mustafa ; Teralı, Kerem ; Eroz, Recep ; Demirci, Huseyin ; Kocabay, Kenan

Molecular biology reports, 2021, Vol.48 (1), p.701-708 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants
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Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants

Cho, Ja Hyang ; Choi, Jin-Ho ; Heo, Sun Hee ; Kim, Gu-Hwan ; Yum, Mi-Sun ; Lee, Beom Hee ; Yoo, Han-Wook

Metabolic brain disease, 2019-10, Vol.34 (5), p.1335-1340 [Periódico revisado por pares]

New York: Springer US

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10
GLUT9 influences uric acid concentration in patients with Lesch‐Nyhan disease
GLUT9 influences uric acid concentration in patients with Lesch‐Nyhan disease
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GLUT9 influences uric acid concentration in patients with Lesch‐Nyhan disease

Torres, Rosa J. ; Puig, Juan G.

International journal of rheumatic diseases, 2018-06, Vol.21 (6), p.1270-1276 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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