Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency

Radiology Case Reports ◽

10.1016/j.radcr.2021.12.004 ◽

2022 ◽

Vol 17 (3) ◽

pp. 847-851

Author(s):

Yazan O. Al Zu'bi ◽

Ahmed H. Al Sharie ◽

Waed Dwairi ◽

Eyad Altamimi

Keyword(s):

Carbonic Anhydrase ◽

Head Trauma ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency

Download Full-text

Kinetic analysis of a mutant (His107–>Tyr) responsible for human carbonic anhydrase II deficiency syndrome.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)53464-5 ◽

1993 ◽

Vol 268 (7) ◽

pp. 4775-4779

Author(s):

C. Tu ◽

J.M. Couton ◽

G. Van Heeke ◽

N.G. Richards ◽

D.N. Silverman

Keyword(s):

Carbonic Anhydrase ◽

Kinetic Analysis ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency ◽

Human Carbonic Anhydrase

Download Full-text

A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family

Metabolic Brain Disease ◽

10.1007/s11011-021-00677-9 ◽

2021 ◽

Vol 36 (4) ◽

pp. 589-599

Author(s):

Yan Yang ◽

Nie Tang ◽

Ying Zhu ◽

Lei Zhang ◽

Xu Cao ◽

...

Keyword(s):

Carbonic Anhydrase ◽

Nonsense Mutation ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Chinese Family ◽

Carbonic Anhydrase Ii Deficiency ◽

Homozygous Nonsense Mutation

Download Full-text

Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family

The Journal of Pediatrics ◽

10.1016/s0022-3476(98)70367-1 ◽

1998 ◽

Vol 132 (4) ◽

pp. 717-720 ◽

Author(s):

P. Strisciuglio ◽

P.Y. Hu ◽

E.J. Lim ◽

J. Ciccolella ◽

W.S. Sly

Keyword(s):

Prenatal Diagnosis ◽

Carbonic Anhydrase ◽

Carbonic Anhydrase Ii ◽

Molecular Heterogeneity ◽

Italian Family ◽

Carbonic Anhydrase Ii Deficiency

Download Full-text

A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement

Human Genetics ◽

10.1007/s004390050068 ◽

1996 ◽

Vol 97 (4) ◽

pp. 435-437 ◽

Author(s):

H. Soda ◽

Shigenori Yukizane ◽

Ichiro Yoshida ◽

Yasutoshi Koga ◽

Shuichi Aramaki ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Carbonic Anhydrase ◽

Point Mutation ◽

Central Nervous System Involvement ◽

Japanese Patients ◽

Carbonic Anhydrase Ii ◽

System Involvement ◽

Carbonic Anhydrase Ii Deficiency

Download Full-text

Molecular basis of human carbonic anhydrase II deficiency.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.89.5.1804 ◽

1992 ◽

Vol 89 (5) ◽

pp. 1804-1808 ◽

Author(s):

D. E. Roth ◽

P. J. Venta ◽

R. E. Tashian ◽

W. S. Sly

Keyword(s):

Carbonic Anhydrase ◽

Molecular Basis ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency ◽

Human Carbonic Anhydrase

Download Full-text

Carbonic Anhydrase II Deficiency

Clinical Orthopaedics and Related Research ◽

10.1097/00003086-199309000-00007 ◽

1993 ◽

Vol 294 ◽

pp. 52-63 ◽

Author(s):

Michael P. Whyte

Keyword(s):

Carbonic Anhydrase ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency

Download Full-text

Carbonic anhydrase II deficiency: phenotype, genotype and marrow transplantation

Irish Journal of Medical Science (1971 -) ◽

10.1007/bf03169821 ◽

2001 ◽

Vol 170 (S2) ◽

pp. 60-60

Keyword(s):

Carbonic Anhydrase ◽

Marrow Transplantation ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency

Download Full-text

Carbonic Anhydrase II Deficiency

Journal of Pediatric Hematology/Oncology ◽

10.1097/01.mph.0000154068.86987.47 ◽

2005 ◽

Vol 27 (2) ◽

pp. 115-117 ◽

Author(s):

Melanie Cotter ◽

Thomas Connell ◽

Eric Colhoun ◽

Owen P Smith ◽

Corrina McMahon

Keyword(s):

Carbonic Anhydrase ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency

Download Full-text

Renal tubular acidosis, osteopetrosis, and cerebral calcification: A rare syndrome caused by carbonic anhydrase II deficiency

Indian Journal of Nephrology ◽

10.4103/0971-4065.209347 ◽

2017 ◽

Vol 27 (4) ◽

pp. 330 ◽

Author(s):

BA Laway ◽

I Mubarik

Keyword(s):

Carbonic Anhydrase ◽

Renal Tubular Acidosis ◽

Carbonic Anhydrase Ii ◽

Cerebral Calcification ◽

Rare Syndrome ◽

Carbonic Anhydrase Ii Deficiency ◽

Download Full-text

Carbonic Anhydrase II Deficiency Syndrome. Clinico-pathological, Biochemical and Molecular Studies.

The Kurume Medical Journal ◽

10.2739/kurumemedj.41.233 ◽

1994 ◽

Vol 41 (4) ◽

pp. 233-240 ◽

Author(s):

HIROKO SODA

Keyword(s):

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Carbonic Anhydrase Ii Deficiency ◽

Molecular Studies

Download Full-text