Tyrosinemia type II: Novel mutations in TAT
 in a boy with unusual presentation

Songul Gokay; Mustafa Kendirci; Pembe Soylu Ustkoyuncu; Fatih Kardas; Ayse Kacar Bayram; Hüseyin Per; Hatice Gamze Poyrazoğlu

doi:10.1111/ped.13062

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation

Pediatrics International ◽

10.1111/ped.13062 ◽

2016 ◽

Vol 58 (10) ◽

pp. 1069-1072 ◽

Cited By ~ 1

Author(s):

Songul Gokay ◽

Mustafa Kendirci ◽

Pembe Soylu Ustkoyuncu ◽

Fatih Kardas ◽

Ayse Kacar Bayram ◽

...

Keyword(s):

Unusual Presentation ◽

Type Ii ◽

Novel Mutations ◽

Tyrosinemia Type Ii

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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

Clinical Genetics ◽

10.1111/cge.13003 ◽

2017 ◽

Vol 92 (3) ◽

pp. 306-317 ◽

Cited By ~ 10

Author(s):

L. Peña-Quintana ◽

G. Scherer ◽

M.L. Curbelo-Estévez ◽

F. Jiménez-Acosta ◽

B. Hartmann ◽

...

Keyword(s):

Founder Mutation ◽

Type Ii ◽

Novel Mutations ◽

Tyrosinemia Type Ii

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Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

Genes & Genomics ◽

10.1007/s13258-020-01032-5 ◽

2021 ◽

Vol 43 (2) ◽

pp. 115-121

Author(s):

Thu Hien Nguyen ◽

Ngoc-Lan Nguyen ◽

Chi Dung Vu ◽

Can Thi Bich Ngoc ◽

Ngoc Khanh Nguyen ◽

...

Keyword(s):

Type Ii ◽

Novel Mutations ◽

Primordial Dwarfism

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Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Journal of Neurology ◽

10.1007/s00415-008-0714-0 ◽

2008 ◽

Vol 255 (6) ◽

pp. 831-838 ◽

Cited By ~ 31

Author(s):

L. Wan ◽

C.-C. Lee ◽

C.-M. Hsu ◽

W.-L. Hwu ◽

C.-C. Yang ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Novel Mutations ◽

Juvenile Form

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Type II lepra reaction: An unusual presentation

Dermatology Online Journal ◽

10.5070/d3448655c6 ◽

2006 ◽

Vol 12 (1) ◽

Author(s):

S Chauhan ◽

S D'Cruz ◽

H Mohan ◽

R Singh ◽

J Ram ◽

...

Keyword(s):

Unusual Presentation ◽

Type Ii

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Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.05.003 ◽

2016 ◽

Vol 118 (3) ◽

pp. 190-197 ◽

Cited By ~ 25

Author(s):

Motomichi Kosuga ◽

Ryuichi Mashima ◽

Asami Hirakiyama ◽

Naoko Fuji ◽

Tadayuki Kumagai ◽

...

Keyword(s):

Molecular Diagnosis ◽

Hunter Syndrome ◽

Mucopolysaccharidosis Type ◽

Type Ii ◽

Structural Studies ◽

Mucopolysaccharidosis Type Ii ◽

Novel Mutations

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Mucopolysaccaharidosis type II: Clinical, enzymatic, and ERT data and four novel mutations of eight cases

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2012.11.185 ◽

2013 ◽

Vol 108 (2) ◽

pp. S71

Author(s):

Halise Önenli Mungan ◽

Den Z. Kör ◽

Sevcan Erdem ◽

Sureya Soyüpak ◽

S. Bel Ba Aran

Keyword(s):

Type Ii ◽

Novel Mutations

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Tyrosinemia Type II in Two Cases Previously Reported as Richner-Hanhart Syndrome

Dermatology ◽

10.1159/000249221 ◽

1986 ◽

Vol 173 (2) ◽

pp. 66-74 ◽

Cited By ~ 5

Author(s):

Nicola Balato ◽

Francesco Cusano ◽

Giuseppe Lembo ◽

Pietro Santoianni

Keyword(s):

Type Ii ◽

Tyrosinemia Type Ii ◽

Hanhart Syndrome

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Type II polyglandular autoimmune syndrome: an unusual presentation

Practical Diabetes International ◽

10.1002/pdi.1552 ◽

2011 ◽

Vol 28 (1) ◽

pp. 41-42

Author(s):

SM Phillips ◽

MI Butt ◽

AM Robinson

Keyword(s):

Unusual Presentation ◽

Type Ii ◽

Polyglandular Autoimmune Syndrome ◽

Autoimmune Syndrome

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Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations

Scandinavian Journal of Immunology ◽

10.1111/sji.12966 ◽

2020 ◽

Vol 93 (1) ◽

Author(s):

Zahra Alizadeh ◽

Susan Nabilou ◽

Marzieh Mazinani ◽

Shaghayegh Tajik ◽

Amir Ali Hamidieh ◽

...

Keyword(s):

Type Ii ◽

Novel Mutations ◽

Partial Albinism

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P10 Type II lepra reaction: an unusual presentation with PUO, skin ulceration, acute polyarthritis and suppurative lymphadenitis

Indian Journal of Rheumatology ◽

10.1016/s0973-3698(10)60454-2 ◽

2008 ◽

Vol 3 (3) ◽

pp. S34

Author(s):

V Marwaha ◽

JI Singh ◽

D Mahapatra ◽

K Narayanan ◽

Dharmesh ◽

...

Keyword(s):

Unusual Presentation ◽

Type Ii ◽

Skin Ulceration ◽

Acute Polyarthritis ◽

Suppurative Lymphadenitis

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