Literature DB >> 6793501

Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB.

W Holzgreve, H Gröbe, K von Figura, H Kresse, H Beck, J F Mattei.   

Abstract

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Year:  1981        PMID： 6793501     DOI： 10.1007/BF00281685

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  19 in total

1.  CHONDRO-OSTEO-DYSTROPHY: MORQUIO-BRAILSFORD SYNDROME IN A 49-YEAR-OLD NEGRO MALE.

Authors:  A M KNIGHT
Journal:  J Med Assoc Ga       Date:  1965-07

2.  Clini copathological review of ten cases of Morquio's disease.

Authors:  S SINGH; J G PETRIE; W J PIROZYNSKI
Journal:  Can J Surg       Date:  1962-10       Impact factor: 2.089

3.  Morquio's disease: An abnormality of mucopolysaccharide metabolism.

Authors:  M M ROBINS; H F STEVENS; A LINKER
Journal:  J Pediatr       Date:  1963-06       Impact factor: 4.406

4.  Abnormal keratan sulphate excretion.

Authors:  K Longdon; C A Pennock
Journal:  Ann Clin Biochem       Date:  1979-05       Impact factor: 2.057

5.  Cutaneous changes in the Morquio syndrome.

Authors:  M W Greaves; P M Inman
Journal:  Br J Dermatol       Date:  1969-01       Impact factor: 9.302

6.  Spinal cord compression in Morquio-Brailsford's disease.

Authors:  M E Blaw; L O Langer
Journal:  J Pediatr       Date:  1969-04       Impact factor: 4.406

7.  Morquio-Brailsford disease. A report of four affected sisters with absence of excessive keratan sulphate in the urine.

Authors:  P Jenkins; G R Davies; P S Harper
Journal:  Br J Radiol       Date:  1973-09       Impact factor: 3.039

8.  [Diagnosis and differential diagnosis of Morquio's disease].

Authors:  J Spranger; W Schuster
Journal:  Monatsschr Kinderheilkd       Date:  1969-04

9.  Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis.

Authors:  S J Lipson
Journal:  J Bone Joint Surg Am       Date:  1977-04       Impact factor: 5.284

10.  The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies.

Authors:  D W Hollister; A H Cohen; D L Rimoin; R Silberberg
Journal:  Johns Hopkins Med J       Date:  1975-10
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  13 in total

Review 1.  Variable clinical presentation in lysosomal storage disorders.

Authors:  M Beck
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

2.  Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A).

Authors:  M Iwamoto; Y Nawa; I H Maumenee; J Young-Ramsaran; R Matalon; W R Green
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1990       Impact factor: 3.117

3.  The lesions of an ovine lysosomal storage disease. Initial characterization.

Authors:  R D Murnane; D J Prieur; A J Ahern-Rindell; S M Parish; L L Collier
Journal:  Am J Pathol       Date:  1989-02       Impact factor: 4.307

4.  [Various technics of occipito-cervical fusion].

Authors:  O Trentz; P Flory; V Bühren
Journal:  Langenbecks Arch Chir       Date:  1984

5.  Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.

Authors:  A Kohlschütter; K Sieg; F J Schulte; H W Hayek; H H Goebel
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

Review 6.  Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Authors:  Hira Peracha; Kazuki Sawamoto; Lauren Averill; Heidi Kecskemethy; Mary Theroux; Mihir Thacker; Kyoko Nagao; Christian Pizarro; William Mackenzie; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji Orii; Tadao Orii; Toshiyuki Fukao; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2018-05-15       Impact factor: 4.797

7.  A rare case of mucopolysaccharidosis.

Authors:  Ipsita Choudhury; Mona A Tilak; Arun Kumar Patra
Journal:  Indian J Clin Biochem       Date:  2013-06-08

8.  Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.

Authors:  J J van Gemund; M A Giesberts; R F Eerdmans; W Blom; W J Kleijer
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 9.  Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

Authors:  Christian J Hendriksz; Maisoon Al-Jawad; Kenneth I Berger; Sara M Hawley; Rebecca Lawrence; Ciarán Mc Ardle; C Gail Summers; Elizabeth Wright; Elizabeth Braunlin
Journal:  J Inherit Metab Dis       Date:  2012-02-23       Impact factor: 4.982

10.  Diagnosing mucopolysaccharidosis IVA.

Authors:  Timothy C Wood; Katie Harvey; Michael Beck; Maira Graeff Burin; Yin-Hsiu Chien; Heather J Church; Vânia D'Almeida; Otto P van Diggelen; Michael Fietz; Roberto Giugliani; Paul Harmatz; Sara M Hawley; Wuh-Liang Hwu; David Ketteridge; Zoltan Lukacs; Nicole Miller; Marzia Pasquali; Andrea Schenone; Jerry N Thompson; Karen Tylee; Chunli Yu; Christian J Hendriksz
Journal:  J Inherit Metab Dis       Date:  2013-02-01       Impact factor: 4.982
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