Works matching Menkes syndrome

Results: 90

Urological complications and copper replacement therapy in childhood Menkes syndrome.

Published in:

Acta Paediatrica, 2006, v. 95, n. 7, p. 785, doi. 10.1080/08035250500538957

By:

Zaffanello, Marco;
Maffeis, Claudio;
Fanos, Vassilios;
Franchini, Massimo;
Zamboni, Giorgio

Publication type:

Article

Menke–Hennekam Syndrome: A Literature Review and a New Case Report.

Published in:

Children, 2022, v. 9, n. 5, p. 759, doi. 10.3390/children9050759

By:

Sima, Aurora;
Smădeanu, Roxana Elena;
Simionescu, Anca Angela;
Nedelea, Florina;
Vlad, Andreea-Maria;
Becheanu, Cristina

Publication type:

Article

Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Published in:

2023

By:

Cogan, Guillaume;
Bourgon, Nicolas;
Borghese, Roxana;
Julien, Emmanuel;
Jaquette, Aurélia;
Stos, Bertrand;
Achaiaa, Amale;
Chuon, Sophie;
Nitschke, Patrick;
Fourrage, Cécile;
Stirnemann, Julien;
Boutaud, Lucile;
Attie‐Bitach, Tania

Publication type:

Case Study

ON THE PATHOGENESIS AND CLINICAL EXPRESSION OF MENKES' KINKY HAIR SYNDROME.

Published in:: Nutrition Reviews, 1981, v. 39, n. 11, p. 391, doi. 10.1111/j.1753-4887.1981.tb06723.x
Publication type:: Article

Progressive Sliding Hiatal Hernia as a Complication of Menkes' Syndrome.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 5, p. 401, doi. 10.1177/088307380201700521

By:

Shiihara, Takashi;
Kato, Mitsuhiro;
Honma, Tomomi;
Kimura, Toshiyuki;
Matsunaga, Akira;
Kodama, Hiroko;
Hayasaka, Kiyoshi

Publication type:

Article

Menkes' Kinky Hair Syndrome: Ultrastructural Cutaneous Alterations of the Elastic Fibers.

Published in:

Pediatric Dermatology, 1997, v. 14, n. 5, p. 347, doi. 10.1111/j.1525-1470.1997.tb00978.x

By:

Martins, C.;
Gonçalves, C.;
Moreno, A.;
Gonçalves, O.;
Baptista, A. Poiares;
Bairos, V.

Publication type:

Article

Menke's kinky hair syndrome – A spectrum of clinico-radiological findings.

Published in:

Apollo Medicine, 2013, v. 10, n. 4, p. 302, doi. 10.1016/j.apme.2013.02.005

By:

Agrawal, Alka;
Tripathi, P.S.;
Geda, Abhishree;
Nischal, Neha

Publication type:

Article

Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome -- Trichopoliodystrophy.

Published in:

Clinical Pediatrics, 1984, v. 23, n. 9, p. 514, doi. 10.1177/000992288402300915

By:

Gunn, Tania R.;
Macfarlane, Scott;
Phillips, L. I.

Publication type:

Article

An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 417, doi. 10.1002/humu.22266

By:

Tümer, Zeynep

Publication type:

Article

Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome.

Published in:

Pediatric & Developmental Pathology, 1998, v. 1, n. 1, p. 85, doi. 10.1007/s100249900011

By:

Kaler, Stephen G.

Publication type:

Article

Anaesthetic considerations in the child with Menkes' syndrome.

Published in:

1992

By:

Tobias, Joseph;
Tobias, J D

Publication type:

journal article

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 517, doi. 10.1038/ejhg.2013.191

By:

Yasmeen, Saiqa;
Lund, Katrine;
De Paepe, Anne;
De Bie, Sylvia;
Heiberg, Arvid;
Silva, João;
Martins, Márcia;
Skjørringe, Tina;
Møller, Lisbeth B

Publication type:

Article

A case of Menkes' syndrome associated with deafness and inferior cerebellar vermian hypoplasia.

Published in:

1997

By:

Aynaci, FM;
Mocan, H;
Bahadir, S;
Sari, A;
Aksoy, A;
Aynaci, F M

Publication type:

Case Study

Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome.

Published in:

Case Reports in Pediatrics, 2021, p. 1, doi. 10.1155/2021/4398456

By:

Hui, Wun Fung;
Hon, Kam Lun;
Leung, Alexander K. C.;
Pang, Kristine Kit Yi;
Leung, Michael Wai Yip

Publication type:

Article

Síndrome de Menkes.

Published in:

Boletín Médico del Hospital Infantil de México, 2002, v. 59, n. 6, p. 365

By:

Carbajal-Rodríguez, Luis;
Belmont-Martínez, Leticia;
González-del Ángel, Ariadna;
Delgado-Falcón, Joanna;
Durán, Carola;
Rodríguez-Herrera, Raymundo;
Barrios-Fuentes, Rosalba;
Zarco-Román, Jorge;
Flores-Díaz, José Luis

Publication type:

Article

Menkes' Syndrome (Trichopoliodystrophy): Use of Scanning Electron-microscope in Diagnosis and Carrier Identification.

Published in:

Developmental Medicine & Child Neurology, 1981, v. 23, n. 4, p. 361, doi. 10.1111/j.1469-8749.1981.tb02001.x

By:

Taylor, C. J.;
Green, S. H.

Publication type:

Article

Menkes' Syndrome (Trichopoliodystrophy): Use of Scanning Electron-microscope in Diagnosis and Carrier Identification.

Published in:

Developmental Medicine & Child Neurology, 1981, v. 23, n. 3, p. 361, doi. 10.1111/j.1469-8749.1981.tb02468.x

By:

Taylor, C. J.;
Green, S. H.

Publication type:

Article

Menkes' kinky-hair (steely-hair) syndrome.

Published in:

1974

By:

Gordon, Neil;
Gordon, N

Publication type:

journal article

The History of John Hans Menkes and Kinky Hair Syndrome.

Published in:

2017

By:

Patel, Parth;
Prabhu, Arpan V.;
Benedek, Thomas G.

Publication type:

journal article

Histopathological Changes and Tissue Copper Concentrations of Menkes' Kinky-hair Syndrome.

Published in:

Pediatrics International, 1980, v. 24, n. 3, p. 380, doi. 10.1111/j.1442-200X.1980.tb00537.x

By:

Okada, K.;
Inaba, H.;
Miyao, M.

Publication type:

Article

Intestinal Absorption and Copper Infusion Treatment on Menkes Kinky Hair Syndrome.

Published in:

Pediatrics International, 1978, v. 20, n. 1, p. 71, doi. 10.1111/j.1442-200X.1978.tb00119.x

By:

Aoki, Tsugutoshi;
Shinomiya, Noriaki;
Sazi, Tsutomu;
Arimura, Akira;
Yasuda, Takao;
Segawa, Masaya

Publication type:

Article

Menkes Syndrome: Subcellular Distribution of Copper Determined by an Ultrastructural Histochemical Technique.

Published in:

Ultrastructural Pathology, 1980, v. 1, n. 2, p. 237, doi. 10.3109/01913128009141420

By:

Horn, Nina;
Jensen, O. A.

Publication type:

Article

Menkes' kinky hair syndrome.

Published in:

2005

By:

George S;
Matthai SA;
Sosamma MM;
Sukumaran TU;
George, Sunil;
Matthai, Sona Anna;
Sosamma, M M;
Sukumaran, T U

Publication type:

journal article

Menkes’ kinky hair syndrome.

Published in:

Indian Journal of Pediatrics, 2005, v. 72, n. 10, p. 891, doi. 10.1007/BF02731126

By:

George, Sunil;
Matthai, Sona;
Sosamma, M.;
Sukumaran, T.

Publication type:

Article

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease.

Published in:

Case Reports in Radiology, 2012, p. 1, doi. 10.1155/2012/684309

By:

Gandhi, Rozil;
Kakkar, Ritu;
Rajan, Sajeev;
Bhangale, Rashmi;
Desai, Shrinivas

Publication type:

Article

Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 4, p. 452, doi. 10.1177/0883073807301931

By:

Bindu, P. S.;
Sinha, S.;
Taly, A. B.;
Kovur, J. M. E.;
Gayathri, N.;
Arunodaya, G. R.

Publication type:

Article

A case of Menkes syndrome with pyloric stenosis: An effect of copper deficiency on NOS1?

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 197, doi. 10.1023/A:1005487027838

By:

Cunningham, S.;
Crofton, P.;
Marshall, T.;
Fitzpatrick, D.

Publication type:

Article

MENKE'S SYNDROME AND WILSON'S DISEASE.

Published in:

Medical Journal of Australia, 1980, v. 1, n. 11, p. 444, doi. 10.5694/j.1326-5377.1980.tb135018.x

By:

Cranston, Ernest

Publication type:

Article

Clinical expression of Menkes syndrome in females.

Published in:

Clinical Genetics, 1990, v. 38, n. 6, p. 452, doi. 10.1111/j.1399-0004.1990.tb03612.x

By:

Gerdes, A.-M.;
Tønnesen, T.;
Horn, N.;
Grisar, T.;
Marg, W.;
Müller, A.;
Reinsch, R.;
Barton, N. W.;
Guiraud, P.;
Joannard, A.;
Richard, M. J.;
Güttler, F.

Publication type:

Article

Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease.

Published in:

Clinical Genetics, 1988, v. 33, n. 3, p. 228, doi. 10.1111/j.1399-0004.1988.tb03441.x

By:

Sander, Conrad;
Niederhoff, Helmut;
Horn, Nina

Publication type:

Article

Is Menkes syndrome a copper storage disorder?

Published in:

Clinical Genetics, 1978, v. 14, n. 3, p. 186, doi. 10.1111/j.1399-0004.1978.tb02128.x

By:

Horn, Nina;
Heydorn, K.;
Damsgaard, Else;
Tygstrup, Inge;
Vestermark, S.

Publication type:

Article

Menkes Kinky Hair Syndrome: Is it a treatable disorder?

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 154, doi. 10.1111/j.1399-0004.1977.tb01294.x

By:

Garnica, A. D.;
Frias, J. L.;
Rennert, O. M.

Publication type:

Article

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 446, doi. 10.1002/ajmg.a.62533

By:

Nishi, Eriko;
Takenouchi, Toshiki;
Miya, Fuyuki;
Uehara, Tomoko;
Yanagi, Kumiko;
Hasegawa, Yuiko;
Ueda, Kimiko;
Mizuno, Seiji;
Kaname, Tadashi;
Kosaki, Kenjiro;
Okamoto, Nobuhiko

Publication type:

Article

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1058, doi. 10.1002/ajmg.a.61131

By:

Banka, Siddharth;
Sayer, Rebecca;
Breen, Catherine;
Barton, Stephanie;
Pavaine, Julija;
Sheppard, Sarah E.;
Bedoukian, Emma;
Skraban, Cara;
Cuddapah, Vishnu A;
Clayton‐Smith, Jill

Publication type:

Article

Neurodegenerative Disorders with Hair Abnormalities: An Emergency Room Consultation for Dermatologists.

Published in:

International Journal of Trichology, 2009, v. 1, n. 1, p. 30, doi. 10.4103/0974-7753.51929

By:

Inamadar, Arun C.;
Palit, Aparna

Publication type:

Article

İkincil Optik Atrofi ile İlişkili Diğer Kalıtsal Sendromlar.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2022, v. 6, n. 2, p. 113

By:

Korhan KARAMAN, Süleyman

Publication type:

Article

El metabolismo del cobre. Sus consecuencias para la salud humana.

Published in:

MediSur, 2018, v. 16, n. 4, p. 579

By:

Feoktistova Victorava, Liudmila;
Feoktistova, Yulia Clark

Publication type:

Article

Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.

Published in:

Current Journal of Neurology, 2020, v. 19, n. 4, p. 200

By:

Vafaee-Shahi, Mohammad;
Ghasemi, Saeideh;
Ghahvechi-Akbar, Masood;
Tahernia, Leila;
Davarzani, Atefeh;
Hajati, Reza;
Zare-Abdollahi, Davood;
Alavi, Afagh

Publication type:

Article

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Published in:

Genes, 2019, v. 10, n. 7, p. 528, doi. 10.3390/genes10070528

By:

Beyens, Aude;
Van Meensel, Kyaran;
Pottie, Lore;
De Rycke, Riet;
De Bruyne, Michiel;
Baeke, Femke;
Hoebeke, Piet;
Plasschaert, Frank;
Loeys, Bart;
De Schepper, Sofie;
Symoens, Sofie;
Callewaert, Bert

Publication type:

Article

Enfermedad de Menkes.

Published in:

MedUNAB, 2010, v. 13, n. 3, p. 169

By:

Suárez, Harold Leonardo Londoño

Publication type:

Article

Decreased activity of cytochrome c oxidase in the macular mottled mouse: an immuno-electron microscopic study.

Published in:

Acta Neuropathologica, 1989, v. 77, n. 5, p. 465, doi. 10.1007/BF00687247

By:

Seki, K.;
Sato, T.;
Ishigaki, Y.;
Nakamura, S.;
Ishihara, Y.;
Ozawa, T.

Publication type:

Article

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1173, doi. 10.1007/s11011-017-0010-8

By:

Gemmis, Paola;
Enzo, Maria;
Lorenzetto, Elisa;
Cattelan, Paola;
Segat, Daniela;
Hladnik, Uros

Publication type:

Article

Epilepsy secondary to Menkes' disease: five cases report and review of literature.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 12, p. 1074, doi. 10.3969/j.issn.1672-6731.2014.12.010

By:

ZHANG Pei-yuan;
ZHANG Yu-qin

Publication type:

Article

Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period.

Published in:

Pediatric & Developmental Pathology, 2014, v. 17, n. 1, p. 36, doi. 10.2350/13-09-1375-OA.1

By:

LEI SHAO;
NEWELL, BRANDON

Publication type:

Article

A child with kinky hair.

Published in:

Canadian Medical Association Journal (CMAJ), 2002, v. 166, n. 11, p. 1442

By:

Swartz, Erik N.

Publication type:

Article

Menkes Disease: Recent Advances and New Insights into Copper Metabolism.

Published in:

Annals of Medicine, 1996, v. 28, n. 2, p. 121, doi. 10.3109/07853899609092936

By:

Türner, Zeynep;
Horn, Nina

Publication type:

Article

Neuropathology of Occipital Horn Syndrome.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 10, p. 764, doi. 10.1177/088307380101601011

By:

Palmer, Cheryl Ann;
Percy, Alan K.

Publication type:

Article

Molecular genetics and pathophysiology of Menkes disease.

Published in:

Pediatrics International, 1999, v. 41, n. 4, p. 430, doi. 10.1046/j.1442-200X.1999.01091.x

By:

Kodama, Hiroko;
Murata, Yoshiko;
Md, Hiroko Kodama

Publication type:

Article

Clinical manifestations and treatment of Menkes disease and its variants.

Published in:

Pediatrics International, 1999, v. 41, n. 4, p. 423, doi. 10.1046/j.1442-200X.1999.01095.x

By:

Kodama, Hiroko;
Murata, Yoshiko;
Kobayashi, Masaaki;
Md, Hiroko Kodama

Publication type:

Article

Hipomelanozy przekazywane z pokolenia na pokolenie.

Published in:

Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2014, v. 68, p. 1081

By:

Otręba, Michał;
Buszman, Ewa;
Miliński, Maciej;
Wrześniok, Dorota

Publication type:

Article